ClinVar Miner

Submissions for variant NM_177986.5(DSG4):c.2928del (p.Asp976fs) (rs754476167)

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
Illumina Clinical Services Laboratory,Illumina RCV000778527 SCV000914810 uncertain significance Hypotrichosis 6 2018-11-08 criteria provided, single submitter clinical testing The DSG4 c.2928delC (p.Asp976GlufsTer2) variant results in a frameshift, and is predicted to result in premature termination of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. Control data are unavailable for this variant, which is reported at a frequency of 0.000087 in the European (non-Finnish) population of the Genome Aggregation Database. This variant is located in the last exon and may escape nonsense-mediated decay. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Due to the potential impact of frameshift variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for localized AR hypotrichosis. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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.