ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.2425G>T (p.Asp809Tyr)

gnomAD frequency: 0.00002  dbSNP: rs397516147
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000035793 SCV000059444 uncertain significance not specified 2016-09-20 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Labcorp Genetics (formerly Invitae), Labcorp RCV001035353 SCV001198678 uncertain significance Hypertrophic cardiomyopathy 2020-01-06 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. This variant is found within a region of MYH7 between codons 181 and 937 that contains the majority of the myosin head domain. Missense variants in this region have been shown to be significantly overrepresented in individuals with hypertrophic cardiomyopathy (PMID: 27532257). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has been observed in individual(s) with clinical features of hypertrophic cardiomyopathy (PMID: 27532257). ClinVar contains an entry for this variant (Variation ID: 42904). This variant is present in population databases (rs397516147, ExAC 0.04%). This sequence change replaces aspartic acid with tyrosine at codon 809 of the MYH7 protein (p.Asp809Tyr). The aspartic acid residue is highly conserved and there is a large physicochemical difference between aspartic acid and tyrosine.
Color Diagnostics, LLC DBA Color Health RCV001524289 SCV001734091 uncertain significance Cardiomyopathy 2023-01-09 criteria provided, single submitter clinical testing This missense variant replaces aspartic acid with tyrosine at codon 809 of the MYH7 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with hypertrophic cardiomyopathy (PMID: 25611685, 27532257). This variant has been identified in 10/251380 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.
Revvity Omics, Revvity RCV003129762 SCV003817690 uncertain significance not provided 2020-10-08 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001524289 SCV004843124 uncertain significance Cardiomyopathy 2023-11-30 criteria provided, single submitter clinical testing

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