ClinVar Miner

Submissions for variant NM_000400.4(ERCC2):c.1623C>G (p.Ser541Arg)

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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004699966 SCV005205258 likely pathogenic Xeroderma pigmentosum 2024-06-06 criteria provided, single submitter clinical testing Variant summary: ERCC2 c.1623C>G (p.Ser541Arg) results in a non-conservative amino acid change located in the ATP-dependent helicase, C-terminal (IPR006555) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251456 control chromosomes. To our knowledge, no occurrence of c.1623C>G in individuals affected with Xeroderma Pigmentosum and no experimental evidence directly assessing its impact on protein function have been reported. However, a different variant resulting in the same amino acid consequence has been classified as pathogenic by our lab (c.1621A>C, p.Ser541Arg), supporting the pathogenicity of this variant. No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005017218 SCV005648396 likely pathogenic Cerebrooculofacioskeletal syndrome 2; Xeroderma pigmentosum, group D; Trichothiodystrophy 1, photosensitive 2024-06-07 criteria provided, single submitter clinical testing

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.