ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1053G>C (p.Arg351Ser)

dbSNP: rs2095893951
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002406042 SCV002712847 uncertain significance Cardiovascular phenotype 2021-07-16 criteria provided, single submitter clinical testing The p.R351S variant (also known as c.1053G>C), located in coding exon 12 of the MYBPC3 gene, results from a G to C substitution at nucleotide position 1053. The arginine at codon 351 is replaced by serine, 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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