ClinVar Miner

Submissions for variant NC_000009.11:g.(?_79851768)_79854605del

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
Labcorp Genetics (formerly Invitae), Labcorp RCV001390757 SCV001592589 pathogenic not provided 2020-07-13 criteria provided, single submitter clinical testing This sequence change (c.1596-1150_1900+1303delins337) is a complex rearrangement involving exons 18-19 of the VPS13A gene. Although the exact nature of the event is unknown, it likely involves partial deletion and/or inversion of these exons. This is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with VPS13A-related conditions. Loss-of-function variants in VPS13A are known to be pathogenic (PMID: 12404112, 21598378). For these reasons, this variant has been classified as 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.