ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3491-2A>C

dbSNP: rs397516022
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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 RCV000621503 SCV000739934 likely pathogenic Cardiovascular phenotype 2016-03-23 criteria provided, single submitter clinical testing The c.3491-2A>C intronic variant results from an A to C substitution two nucleotides upstream from coding exon 32 in the MYBPC3 gene. 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 6133 samples (12266 alleles) with coverage at this position. This nucleotide position is highly conserved conserved in available vertebrate species. Using the ESEfinder splice site prediction tool, this alteration is predicted to abolish the native splice acceptor site; however, direct evidence is unavailable. Alterations that disrupt the canonical splice acceptor site are typically deleterious in nature (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294). As such, the c.3491-2A>C variant is classified as likely pathogenic.

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