ClinVar Miner

Submissions for variant NM_003803.4(MYOM1):c.3863C>T (p.Pro1288Leu) (rs200808890)

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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 RCV000607280 SCV000711648 uncertain significance not specified 2016-06-16 criteria provided, single submitter clinical testing The p.Pro1288Leu variant in MYOM1 has not been previously reported in individual s with cardiomyopathy, but has been identified in 5/9782 African chromosomes by the Exome Aggregation Consortium (ExAC,; dbSNP rs 200808890). Computational prediction tools and conservation analysis suggest tha t the p.Pro1288Leu variant may impact the protein, though this information is no t predictive enough to determine pathogenicity. This variant is located in the l ast three bases of the exon, which is part of the 5? splice region. Computationa l tools do not suggest an impact to splicing. However, this information is not p redictive enough to rule out pathogenicity. In summary, the clinical significanc e of the p.Pro1288Leu variant is uncertain.
Invitae RCV000804272 SCV000944174 uncertain significance Hypertrophic cardiomyopathy 2019-12-23 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 1288 of the MYOM1 protein (p.Pro1288Leu). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs200808890, ExAC 0.05%). 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: "Deleterious"; PolyPhen-2: "Possibly 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.

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