ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3622C>T (p.Pro1208Ser)

dbSNP: rs2142849872
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001882609 SCV002150808 uncertain significance Hypertrophic cardiomyopathy 2023-06-27 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. 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 1183967). This variant has not been reported in the literature in individuals affected with MYBPC3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1208 of the MYBPC3 protein (p.Pro1208Ser).
Institute of Human Genetics, University of Wuerzburg RCV001541898 SCV001760542 uncertain significance Cardiomyopathy no assertion criteria provided clinical testing

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