ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2451del (p.Trp818fs)

dbSNP: rs1555121247
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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 RCV000619508 SCV000739936 pathogenic Cardiovascular phenotype 2016-02-19 criteria provided, single submitter clinical testing The c.2451delG pathogenic mutation, located in coding exon 25 of the MYBPC3 gene, results from a deletion of one nucleotide at nucleotide position 2451, causing a translational frameshift with a predicted alternate stop codon (p.W818Gfs*4). Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).

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