GenVue Discovery

Christopher's Report

Curation

Conditions reviewed by experts

Below are conditions that were reviewed by an expert panel and/or are in the Genetic Testing Registry (GTR) according to ClinVar. The data presented does not diagnose disease and has no guarantees of reporting accuracy. We report heterozygous variants as yellow and homozygous variants as red. A red or yellow variant does not necessarily mean one has or carries a condition or disease. This is for research and educational purposes only.

Gene: LCT;MCM6
Variant: c.-13907C>T
 rsID: rs4988235
Ref Allele: G
Alt Allele: A
Freq: 16.1342%
CADD: 13.46

ClinVar Submissions (1)

  • Lactase persistence

    View Clinvar Submission

    Variant Details

    Last Evaluated: Nov 20, 2018
    Review Status: no assertion criteria provided
    Number of Submitters: 1
    Clinical Significance: association
    Assembly: GRCh37
    Chromosome/Position: 2:136608646
    OMIM Allelic Variant: 601806.0001

Expert Reviewed

Hetero
AG

Gene: AMPD1
Variant: c.133C>T
(p.Gln45Ter)
 rsID: rs17602729
Ref Allele: G
Alt Allele: A
Freq: 3.8139%uncommon
CADD: 36

ClinVar Submissions (6)

  • Muscle AMP deaminase deficiency

    Myoadenylate deaminase deficiency (MMDD) is an autosomal recessive condition that can manifest as exercise-induced muscle pain, occasionally associated with rhabdomyolysis and/or increased serum creatine kinase, or even infantile hypotonia. However, the finding of homozygous mutations among asymptomatic individuals have suggested to some (e.g., Verzijl et al., 1998) that AMPD1 deficiency may be a harmless entity (summary by Castro-Gago et al., 2011). Genetta et al. (2001) stated that AMPD1 deficiency is the most prevalent genetic disease in humans, the number of people heterozygous approaching 10% of Caucasians and individuals of African descent (Sabina et al., 1989). A small percentage of homozygous-deficient individuals, approximately 1.8% of the population, display symptoms of chronic fatigue and lost productivity as well as a predisposition to stress-related ailments, including heart disease and stroke, according to Genetta et al. (2001).

    View Clinvar Submission

    Variant Details

    Last Evaluated: Jun 27, 2018
    Review Status: criteria provided, conflicting interpretations
    Number of Submitters: 6
    Clinical Significance: Conflicting interpretations of pathogenicity, other
    Assembly: GRCh37
    Chromosome/Position: 1:115236057
    OMIM Allelic Variant: 102770.0001

  • not provided

    The term 'not provided' is registered in MedGen to support identification of submissions to ClinVar for which no condition was named when assessing the variant. 'not provided' differs from 'not specified', which is used when a variant is asserted to be benign, likely benign, or of uncertain significance for conditions that have not been specified.

    View Clinvar Submission

    Variant Details

    Last Evaluated: Jun 27, 2018
    Review Status: criteria provided, conflicting interpretations
    Number of Submitters: 6
    Clinical Significance: Conflicting interpretations of pathogenicity, other
    Assembly: GRCh37
    Chromosome/Position: 1:115236057
    OMIM Allelic Variant: 102770.0001

The individual has two copies of the variant, which suggests they may manifest the associated condition or trait. This variant has conflicting interpretations of pathogenicity and should be interpreted with caution.

Low clinical importance, Likely pathogenic — Causes Adenosine Deaminase Deficiency in a recessive manner. Most of the time individuals do not report symptoms, but when symptoms do exist they to be post-exercise symptoms of muscle weakness, muscle pain, and getting tired more quickly.

Expert Reviewed Clinically Significant Conflicting/Uncertain

Homo
AA