ClinVar Miner

Submissions for variant NM_006790.3(MYOT):c.151A>G (p.Arg51Gly)

dbSNP: rs2149978850
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001365162 SCV001561415 uncertain significance Myofibrillar myopathy 3 2022-03-22 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. 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 1056349). This variant has not been reported in the literature in individuals affected with MYOT-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 51 of the MYOT protein (p.Arg51Gly).
Revvity Omics, Revvity RCV001365162 SCV003810961 uncertain significance Myofibrillar myopathy 3 2019-06-06 criteria provided, single submitter clinical testing

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