ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.976C>T (p.Arg326Trp)

dbSNP: rs776681371
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000628999 SCV000749909 uncertain significance Hypertrophic cardiomyopathy 2023-10-03 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 326 of the MYBPC3 protein (p.Arg326Trp). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with MYBPC3-related conditions. ClinVar contains an entry for this variant (Variation ID: 525027). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
GeneDx RCV002461935 SCV002757056 uncertain significance not provided 2022-11-18 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150313 SCV003838286 uncertain significance Cardiomyopathy 2022-04-14 criteria provided, single submitter clinical testing

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