ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.5293A>G (p.Met1765Val)

gnomAD frequency: 0.00001  dbSNP: rs770165807
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001228337 SCV001400732 uncertain significance Hypertrophic cardiomyopathy 2019-07-16 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with MYH7-related conditions. This variant is present in population databases (rs770165807, ExAC 0.01%). This sequence change replaces methionine with valine at codon 1765 of the MYH7 protein (p.Met1765Val). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and valine.
Color Diagnostics, LLC DBA Color Health RCV003532907 SCV004359512 uncertain significance Cardiomyopathy 2022-11-21 criteria provided, single submitter clinical testing This missense variant replaces methionine with valine at codon 1765 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 MYH7-related disorders in the literature. This variant has been identified in 2/251494 chromosomes 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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