ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.8225A>G (p.His2742Arg)

gnomAD frequency: 0.00026  dbSNP: rs145686832
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517783 SCV000616262 uncertain significance not specified 2016-11-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001851475 SCV002196431 uncertain significance not provided 2022-05-21 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 2742 of the VPS13A protein (p.His2742Arg). This variant is present in population databases (rs145686832, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with VPS13A-related conditions. ClinVar contains an entry for this variant (Variation ID: 448872). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002481690 SCV002794282 uncertain significance Chorea-acanthocytosis 2021-07-29 criteria provided, single submitter clinical testing
GeneDx RCV001851475 SCV004025591 uncertain significance not provided 2023-08-07 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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.