ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.2843C>T (p.Ser948Leu)

dbSNP: rs1350140484
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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 RCV001994299 SCV002274381 uncertain significance Hypertrophic cardiomyopathy 2021-02-18 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MYH7-related conditions. 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: "Benign"; Align-GVGD: "Class C65"). 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 sequence change replaces serine with leucine at codon 948 of the MYH7 protein (p.Ser948Leu). The serine residue is highly conserved and there is a large physicochemical difference between serine and leucine.
Fulgent Genetics, Fulgent Genetics RCV002484927 SCV002796409 uncertain significance Hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Congenital myopathy with fiber type disproportion; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy 2022-02-12 criteria provided, single submitter clinical testing

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