ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3548T>G (p.Phe1183Cys)

dbSNP: rs397516024
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Total submissions: 3
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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 RCV000168820 SCV000059246 uncertain significance not specified 2019-07-22 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Invitae RCV001035130 SCV001198445 uncertain significance Hypertrophic cardiomyopathy 2022-04-15 criteria provided, single submitter clinical testing 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. This sequence change replaces phenylalanine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 1183 of the MYBPC3 protein (p.Phe1183Cys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with hypertrophic cardiomyopathy (PMID: 24793961, 27532257, 33673806). ClinVar contains an entry for this variant (Variation ID: 42720). 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 disruptive.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003486550 SCV004239381 uncertain significance Cardiomyopathy 2023-05-19 criteria provided, single submitter clinical testing

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