Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Baylor Genetics | RCV001329854 | SCV001521403 | pathogenic | Xeroderma pigmentosum, group D | 2019-07-17 | criteria provided, single submitter | clinical testing | This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
| Invitae | RCV001859268 | SCV002231523 | pathogenic | not provided | 2023-09-17 | criteria provided, single submitter | clinical testing | This sequence change results in a frameshift in the ERCC2 gene (p.Lys671Glnfs*103). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 90 amino acid(s) of the ERCC2 protein and extend the protein by 12 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). 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: 1028729). This variant disrupts a region of the ERCC2 protein in which other variant(s) (p.Arg722Trp) have been determined to be pathogenic (PMID: 31282071, 31803976). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |
| Baylor Genetics | RCV003469558 | SCV004194628 | pathogenic | Cerebrooculofacioskeletal syndrome 2 | 2023-10-07 | criteria provided, single submitter | clinical testing |