ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4907C>T (p.Ala1636Val)

dbSNP: rs1555336406
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000555896 SCV000623726 uncertain significance Hypertrophic cardiomyopathy 2022-12-02 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 454381). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on MYH7 protein function. This variant has not been reported in the literature in individuals affected with MYH7-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1636 of the MYH7 protein (p.Ala1636Val).
Color Diagnostics, LLC DBA Color Health RCV001525574 SCV001735737 uncertain significance Cardiomyopathy 2020-06-07 criteria provided, single submitter clinical testing This missense variant replaces alanine with valine at codon 1636 of the MYH7 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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