ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.2590C>T (p.Arg864Cys)

gnomAD frequency: 0.00001  dbSNP: rs587778284
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001854622 SCV002180557 uncertain significance Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2022-10-08 criteria provided, single submitter clinical testing This variant is present in population databases (rs587778284, gnomAD 0.006%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 864 of the ERCC4 protein (p.Arg864Cys). This variant has not been reported in the literature in individuals affected with ERCC4-related conditions. 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. 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 ERCC4 protein function. ClinVar contains an entry for this variant (Variation ID: 134139).
ITMI RCV000120812 SCV000084977 not provided not specified 2013-09-19 no assertion provided reference population

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