ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3514_3517dup (p.Lys1173delinsIleTer)

dbSNP: rs1555120309
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484027 SCV000565981 pathogenic not provided 2015-03-26 criteria provided, single submitter clinical testing Although the c.3514_3517dupTATA variant in the MYBPC3 gene has not been reported to ourknowledge, this variant causes a shift in reading frame starting at codon Lysine 1173, changing it to anIsoleucine, and creating a premature stop codon at position 2 of the new reading frame, denotedp.Lys1173IlefsX2. This duplication is expected to result in either an abnormal, truncated protein product orloss of protein from this allele through nonsense-mediated mRNA decay. Other frameshift variants in the MYBPC3 gene have been reported in HGMD in association with cardiomyopathy (Stenson P et al., 2014). In summary, c.3514_3517dupTATA in the MYBPC3 gene is interpreted as a pathogenic variant.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.