ClinVar Miner

Submissions for variant NM_016628.5(WAC):c.112del (p.Ser38fs) (rs864321693)

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
GeneDx RCV000485468 SCV000566156 pathogenic not provided 2015-03-30 criteria provided, single submitter clinical testing The c.112delA variant in the WAC gene has not been reported previously as pathogenicnor as a benign polymorphism, to our knowledge. The c.112delA deletion causes a frameshiftstarting with codon Serine 38, changes this amino acid to an Alanine residue, and creates a premature Stop codon at position 154 of the new reading frame, denoted p.Ser38AlafsX154. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Furthermore, the c.112delA deletion was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Therefore, we interpret c.112delA as a pathogenic variant.
OMIM RCV000203557 SCV000258626 pathogenic Desanto-shinawi syndrome 2015-11-01 no assertion criteria provided literature only

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.