ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3812G>C (p.Arg1271Pro)

dbSNP: rs762225417
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788509 SCV000927655 uncertain significance not provided 2018-04-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001856226 SCV002253494 uncertain significance Hypertrophic cardiomyopathy 2023-06-15 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 1271 of the MYBPC3 protein (p.Arg1271Pro). This variant is not present in population databases (gnomAD no frequency). 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: 636623). 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.
Ambry Genetics RCV002352302 SCV002622398 uncertain significance Cardiovascular phenotype 2023-05-01 criteria provided, single submitter clinical testing The p.R1271P variant (also known as c.3812G>C), located in coding exon 33 of the MYBPC3 gene, results from a G to C substitution at nucleotide position 3812. The arginine at codon 1271 is replaced by proline, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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