Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002539589 | SCV003442188 | uncertain significance | not provided | 2022-06-17 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This missense change has been observed in individuals with clinical features of Cockayne syndrome (PMID: 24354460). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 798 of the ERCC5 protein (p.Asp798Tyr). |
| Center for Genomic Medicine, |
RCV001844340 | SCV004806040 | uncertain significance | Xeroderma pigmentosum, group G | 2024-03-25 | criteria provided, single submitter | clinical testing | |
| Center for Genomic Medicine, |
RCV001844340 | SCV001870463 | likely pathogenic | Xeroderma pigmentosum, group G | 2021-04-29 | no assertion criteria provided | research |