ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.355G>A (p.Glu119Lys)

gnomAD frequency: 0.00001  dbSNP: rs397516025
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000035596 SCV000059247 uncertain significance not specified 2016-08-03 criteria provided, single submitter clinical testing The p.Glu119Lys variant in MYBPC3 has been identified by our laboratory in 2 ind ividuals with HCM. In one family, the variant segregated with disease in 2 affec ted individuals, but not in another affected relative. Data from large populatio n studies is insufficient to assess the frequency of this variant. Computationa l prediction tools and conservation analysis suggest that the p.Glu119Lys varian t may not impact the protein, though this information is not predictive enough t o rule out pathogenicity. In summary, the clinical significance of the p.Glu119L ys variant is uncertain.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170429 SCV001333008 uncertain significance Cardiomyopathy 2018-06-06 criteria provided, single submitter clinical testing
Invitae RCV001852723 SCV002116984 uncertain significance Hypertrophic cardiomyopathy 2022-10-11 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 119 of the MYBPC3 protein (p.Glu119Lys). 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: 42721). This missense change has been observed in individual(s) with hypertrophic cardiomyopathy (PMID: 27532257). This variant is present in population databases (rs397516025, gnomAD 0.003%).
Dept of Medical Biology, Uskudar University RCV003318338 SCV004021976 uncertain significance Long QT syndrome 2024-01-08 criteria provided, single submitter research Criteria: PM2, BP4

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