ClinVar Miner

Submissions for variant NM_000256.3:c.3315delG

dbSNP: rs1565623093
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 RCV000158399 SCV000208334 pathogenic Cardiomyopathy 2014-08-08 criteria provided, single submitter clinical testing c.3316delG: p.Asp1106ThrfsX83 (D1106TfsX83) in exon 30 of the MYBPC3 gene (NM_000256.3) The normal sequence with the bases that are deleted in braces is: CCGA{G}ACAA.Although the c.3316delG mutation in the MYBPC3 gene has not been reported to our knowledge, this mutation causes a shift in reading frame starting at codon Aspartic acid 1106, changing it to a Threonine, and creating a premature stop codon at position 83 of the new reading frame, denoted p.Asp1106ThrfsX83. This mutation is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Other frameshift mutations in the MYBPC3 gene have been reported in association with cardiomyopathy. In summary, c.3316delG in the MYBPC3 gene is interpreted as a disease-causing mutation. The variant is found in CARDIOMYOPATHY panel(s).

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.