ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4912G>A (p.Glu1638Lys)

dbSNP: rs1238699518
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001189054 SCV001356249 uncertain significance Cardiomyopathy 2019-08-20 criteria provided, single submitter clinical testing This missense variant replaces glutamic acid with lysine at codon 1638 of the MYH7 protein. Computational prediction tools and conservation analyses are inconclusive regarding the impact of this variant on protein structure and function. Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has been reported in an individual affected with hypertrophic cardiomyopathy (PMID: 23283745). 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001204564 SCV001375776 uncertain significance Hypertrophic cardiomyopathy 2022-08-06 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 926457). 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 missense change has been observed in individual(s) with hypertrophic cardiomyopathy (PMID: 23283745). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1638 of the MYH7 protein (p.Glu1638Lys).

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