Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002937928 | SCV003262112 | uncertain significance | Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q | 2022-06-13 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs200317919, gnomAD 0.01%). 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: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with ERCC4-related conditions. This sequence change replaces threonine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 667 of the ERCC4 protein (p.Thr667Asn). |
| Ambry Genetics | RCV002937927 | SCV003675057 | uncertain significance | Inborn genetic diseases | 2022-12-19 | criteria provided, single submitter | clinical testing | The c.2000C>A (p.T667N) alteration is located in exon 10 (coding exon 10) of the ERCC4 gene. This alteration results from a C to A substitution at nucleotide position 2000, causing the threonine (T) at amino acid position 667 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |