ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.11C>G (p.Ser4Trp)

dbSNP: rs758659692
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000628862 SCV000749770 uncertain significance Hypertrophic cardiomyopathy 2018-02-15 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with tryptophan at codon 4 of the MYH7 protein (p.Ser4Trp). The serine residue is weakly conserved and there is a large physicochemical difference between serine and tryptophan. 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. A computational algorithm designed to assess the pathogenicity of variants in MYH7 with regard to hypertrophic cardiomyopathy predicted this sequence change to be tolerated. The algorithm has a sensitivity of 94% and a specificity of 89% (PMID: 21310275). This variant has not been reported in the literature in individuals with MYH7-related disease. However, a different sequence change affecting the same codon, p.Ser4Leu, has been reported in individuals affected with hypertrophic cardiomyopathy (PMID: 19150014, 22765922, 25342278).

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