ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3622C>G (p.Pro1208Ala)

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 RCV002604986 SCV002964996 uncertain significance Hypertrophic cardiomyopathy 2022-08-04 criteria provided, single submitter clinical testing 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. 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 variant has not been reported in the literature in individuals affected with MYBPC3-related conditions. This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 1208 of the MYBPC3 protein (p.Pro1208Ala). This variant is not present in population databases (gnomAD no frequency).
Ambry Genetics RCV005375115 SCV006035928 uncertain significance Cardiovascular phenotype 2024-12-14 criteria provided, single submitter clinical testing The p.P1208A variant (also known as c.3622C>G), located in coding exon 32 of the MYBPC3 gene, results from a C to G substitution at nucleotide position 3622. The proline at codon 1208 is replaced by alanine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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