ClinVar Miner

Submissions for variant NM_003803.4(MYOM1):c.3308G>A (p.Arg1103Gln) (rs186972208)

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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 RCV000222758 SCV000270566 likely benign not specified 2015-05-16 criteria provided, single submitter clinical testing p.Arg1103Gln in exon 22 of MYOM1: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. Of note, >40 mammals have a glutamine (Gln) at this position despite high nearby a mino acid conservation. This variant has been identified in 4/64998 European chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; dbSNP rs186972208).
Invitae RCV000811492 SCV000951760 uncertain significance Hypertrophic cardiomyopathy 2018-12-10 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 1103 of the MYOM1 protein (p.Arg1103Gln). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs186972208, ExAC 0.006%). This variant has not been reported in the literature in individuals with MYOM1-related conditions. ClinVar contains an entry for this variant (Variation ID: 227700). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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