ClinVar Miner

Submissions for variant NM_003803.4(MYOM1):c.199T>G (p.Ser67Ala)

gnomAD frequency: 0.00002  dbSNP: rs373871002
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001052143 SCV001216340 uncertain significance Hypertrophic cardiomyopathy 2019-05-03 criteria provided, single submitter clinical testing This sequence change replaces serine with alanine at codon 67 of the MYOM1 protein (p.Ser67Ala). The serine residue is weakly conserved and there is a moderate physicochemical difference between serine and alanine. 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The alanine 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 (rs373871002, ExAC 0.006%).

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