ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1357C>T (p.Pro453Ser)

dbSNP: rs749310275
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000201491 SCV000256158 likely pathogenic Hypertrophic cardiomyopathy 4 criteria provided, single submitter clinical testing
Ambry Genetics RCV002381692 SCV002689315 uncertain significance Cardiovascular phenotype 2016-01-06 criteria provided, single submitter clinical testing The p.P453S variant (also known as c.1357C>T), located in coding exon 16 of the MYBPC3 gene, results from a C to T substitution at nucleotide position 1357. The proline at codon 453 is replaced by serine, an amino acid with similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6240 samples (12480 alleles) with coverage at this position. 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 variant remains unclear.

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