ClinVar Miner

Submissions for variant NM_000400.4(ERCC2):c.1887G>C (p.Gln629His)

dbSNP: rs200665173
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662069 SCV000784405 uncertain significance Cerebrooculofacioskeletal syndrome 1 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662070 SCV000784406 uncertain significance Trichothiodystrophy 1, photosensitive 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662071 SCV000784407 uncertain significance Xeroderma pigmentosum, group D 2018-03-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764209 SCV000895212 uncertain significance Cerebrooculofacioskeletal syndrome 2; Xeroderma pigmentosum, group D; Trichothiodystrophy 1, photosensitive 2022-04-12 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000662071 SCV001288499 uncertain significance Xeroderma pigmentosum, group D 2018-01-15 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Baylor Genetics RCV001329853 SCV001521402 uncertain significance Cerebrooculofacioskeletal syndrome 2 2019-07-17 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV001854613 SCV002122791 uncertain significance not provided 2024-01-22 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 629 of the ERCC2 protein (p.Gln629His). This variant is present in population databases (rs200665173, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with ERCC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 134099). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ERCC2 protein function with a positive predictive value of 80%. 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.
Sema4, Sema4 RCV002256052 SCV002531580 uncertain significance Xeroderma pigmentosum 2021-11-16 criteria provided, single submitter curation
ITMI RCV000120771 SCV000084935 not provided not specified 2013-09-19 no assertion provided reference 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.