ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1358dup (p.Val454fs)

dbSNP: rs727503203
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000158474 SCV000208409 pathogenic Cardiomyopathy 2011-12-07 criteria provided, single submitter clinical testing An insertion of a single “C” nucleotide in exon 16 of the MYBPC3 gene. The normal sequence with the base that is inserted in braces is: GCCCCC{C}TGTGC. This mutation is denoted c.1358dupC at the cDNA level or p.Val454CysfsX21 at the protein level. Although the c.1358dupC mutation in the MYBPC3 gene has not been reported previously, this mutation causes a shift in reading frame starting at codon Valine 454, changing it to a Cysteine, and creates a premature stop codon at position 21 of the new reading frame. The c.1358dupC mutation is expected to result in an abnormal, truncated protein or in absence of protein from this allele due to mRNA decay. Multiple frameshift mutations in the MYBPC3 gene have been reported in association with HCM The variant is found in HCM panel(s).
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000201508 SCV000256179 likely pathogenic Hypertrophic cardiomyopathy 4 criteria provided, single submitter clinical testing
Clinical Genetics Laboratory, Region Ostergotland RCV000201508 SCV001984997 pathogenic Hypertrophic cardiomyopathy 4 2020-10-27 criteria provided, single submitter clinical testing PVS1, PS4, PM2, PP5

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