ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.2135G>A (p.Arg712His)

dbSNP: rs1224554825
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000697832 SCV000826463 pathogenic Hypertrophic cardiomyopathy 2022-02-09 criteria provided, single submitter clinical testing 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). For these reasons, this variant has been classified as Pathogenic. 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 575575). This missense change has been observed in individual(s) with MYH7-related conditions (PMID: 28855170, 32410215; Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 712 of the MYH7 protein (p.Arg712His).
Revvity Omics, Revvity RCV003133547 SCV003817696 uncertain significance not provided 2020-12-28 criteria provided, single submitter clinical testing

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