ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.3523T>G (p.Tyr1175Asp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000694771 SCV000823229 uncertain significance Hypertrophic cardiomyopathy 2018-04-17 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with aspartic acid at codon 1175 of the MYOM1 protein (p.Tyr1175Asp). The tyrosine residue is moderately conserved and there is a large physicochemical difference between tyrosine and aspartic acid. This variant is present in population databases (rs370276820, ExAC 0.003%). This variant has not been reported in the literature in individuals with MYOM1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000825986 SCV000967474 uncertain significance not specified 2018-04-06 criteria provided, single submitter clinical testing The p.Tyr1175Asp variant in MYOM1 has not been reported in individuals with card iomyopathy, but has been identified in 7/126694 of European chromosomes by the G enome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs37 0276820). Computational prediction tools and conservation analysis suggest that this variant may impact the protein, though this information is not predictive e nough to determine pathogenicity. In summary, the clinical significance of the p .Tyr1175Asp variant is uncertain. ACMG/AMP Criteria applied: PP3.

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