ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.3129G>C (p.Glu1043Asp)

dbSNP: rs1049328399
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000821637 SCV000962406 uncertain significance Hypertrophic cardiomyopathy 14 2022-05-17 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 663705). This variant has not been reported in the literature in individuals affected with MYH6-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 1043 of the MYH6 protein (p.Glu1043Asp).
PreventionGenetics, part of Exact Sciences RCV004723246 SCV005337506 uncertain significance MYH6-related disorder 2024-06-16 no assertion criteria provided clinical testing The MYH6 c.3129G>C variant is predicted to result in the amino acid substitution p.Glu1043Asp. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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