ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.2260C>T (p.Arg754Cys)

gnomAD frequency: 0.00001  dbSNP: rs535728795
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001906489 SCV002173972 uncertain significance Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2021-05-11 criteria provided, single submitter clinical testing This variant is present in population databases (rs535728795, ExAC 0.01%). This sequence change replaces arginine with cysteine at codon 754 of the ERCC4 protein (p.Arg754Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant has not been reported in the literature in individuals 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain.

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