ClinVar Miner

Submissions for variant NM_001330368.2(C11orf65):c.641-1110dup (rs1131691254)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000569870 SCV000665568 pathogenic Hereditary cancer-predisposing syndrome 2016-07-20 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
GeneDx RCV000493709 SCV000581708 not provided not provided no assertion provided clinical testing This duplication of one nucleotide is denoted ATM c.5784dupT at the cDNA level and p.Asn1929Ter (N1929X) at the protein level. The normal sequence, with the base that is duplciated in brackets, is ATTTT[T]AATG. The duplication creates a nonsense variant, which changes an Asparagine to a premature stop codon. Although this variant has not been previously reported to our knowledge, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay, and is considered pathogenic.

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.