ClinVar Miner

Submissions for variant NM_003803.4(MYOM1):c.3187G>A (p.Val1063Ile)

gnomAD frequency: 0.00001  dbSNP: rs777270890
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001202231 SCV001373336 uncertain significance Hypertrophic cardiomyopathy 2019-10-08 criteria provided, single submitter clinical testing 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 isoleucine 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. This variant has not been reported in the literature in individuals with MYOM1-related conditions. This variant is present in population databases (rs777270890, ExAC 0.002%). This sequence change replaces valine with isoleucine at codon 1063 of the MYOM1 protein (p.Val1063Ile). The valine residue is moderately conserved and there is a small physicochemical difference between valine and isoleucine. 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.
Ambry Genetics RCV002322003 SCV002608150 likely benign Inborn genetic diseases 2021-12-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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