ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4622A>C (p.Gln1541Pro)

dbSNP: rs587779389
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001857478 SCV002177786 uncertain significance Hypertrophic cardiomyopathy 2022-07-03 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 1541 of the MYH7 protein (p.Gln1541Pro). This missense change has been observed in individual(s) with autosomal dominant distal myopathy (PMID: 24664454). ClinVar contains an entry for this variant (Variation ID: 143210). 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"). 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.
GeneDx RCV003236783 SCV003935423 uncertain significance not provided 2022-12-19 criteria provided, single submitter clinical testing Reported in the heterozygous state in a family with distal myopathy (Lamont et al., 2014); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 24664454)
Neurogenetics Laboratory, Royal Perth Hospital RCV000132749 SCV000119900 pathogenic MYH7-related skeletal myopathy 2013-01-01 no assertion criteria provided clinical testing

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