ClinVar Miner

Submissions for variant NM_003803.4(MYOM1):c.1627G>A (p.Gly543Arg) (rs370063864)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000825203 SCV000966480 likely benign not specified 2018-10-10 criteria provided, single submitter clinical testing The p.Gly543Arg variant in MYOM1 is classified as likely benign because it has b een identified in 0.06% (14/23662) of African chromosomes by gnomAD (http://gnom ad.broadinstitute.org). ACMG/AMP Criteria applied: BS1.
Invitae RCV001240113 SCV001413036 uncertain significance Hypertrophic cardiomyopathy 2019-10-21 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 543 of the MYOM1 protein (p.Gly543Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs370063864, ExAC 0.08%). This variant has not been reported in the literature in individuals with MYOM1-related conditions. ClinVar contains an entry for this variant (Variation ID: 666729). 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: "Tolerated"; 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.

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