ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4663G>A (p.Glu1555Lys)

dbSNP: rs727505176
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000692278 SCV000820092 uncertain significance Hypertrophic cardiomyopathy 2021-07-20 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. Experimental studies have shown that this missense change affects MYH7 protein function (PMID: 24047955). 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: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 571204). This missense change has been observed in individual(s) with hypertrophic cardiomyopathy (HCM) (PMID: 11968089, 22765922). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with lysine at codon 1555 of the MYH7 protein (p.Glu1555Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150333 SCV003838747 likely pathogenic Cardiomyopathy 2021-08-11 criteria provided, single submitter clinical testing

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