ClinVar Miner

Submissions for variant NM_000380.3(XPA):c.631C>T (p.Arg211Ter) (rs149226993)

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
Counsyl RCV000666956 SCV000791333 likely pathogenic Xeroderma pigmentosum, type 1 2017-05-09 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000781923 SCV000920349 pathogenic Xeroderma pigmentosum 2018-11-29 criteria provided, single submitter clinical testing Variant summary: XPA c.631C>T (p.Arg211X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 4.1e-06 in 245906 control chromosomes (gnomAD). c.631C>T has been reported in the literature in multiple homozygote and compound heterozygote individuals affected with Xeroderma Pigmentosum (Satokata_1992, Zhou_2017). These data indicate that the variant is very likely to be associated with disease. A functional study indicates that the variant would "cause instability of the XPAC mRNA and loss of repair activity of the XPAC protein." (Satokata_1992) A ClinVar submission from a clinical diagnostic laboratory (evaluation after 2014) cties the variant as likely pathogenic. Based on the evidence outlined above, the variant was 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.