ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.1144G>T (p.Asp382Tyr)

dbSNP: rs878853836
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226286 SCV000284254 likely pathogenic Hypertrophic cardiomyopathy 2020-11-17 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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). Experimental studies have shown that this variant affects MYH7 protein function (PMID: 31213605). This variant has been observed in individual(s) with hypertrophic cardiomyopathy (PMID: 20031618, Invitae). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (ExAC no frequency). This sequence change replaces aspartic acid with tyrosine at codon 382 of the MYH7 protein (p.Asp382Tyr). The aspartic acid residue is highly conserved and there is a large physicochemical difference between aspartic acid and tyrosine.

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