ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.2588G>C (p.Cys863Ser)

gnomAD frequency: 0.00001  dbSNP: rs749822053
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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 RCV001062344 SCV001227139 uncertain significance Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2020-07-24 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 (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. This variant has not been reported in the literature in individuals with ERCC4-related conditions. This variant is present in population databases (rs749822053, ExAC 0.01%). This sequence change replaces cysteine with serine at codon 863 of the ERCC4 protein (p.Cys863Ser). The cysteine residue is moderately conserved and there is a moderate physicochemical difference between cysteine and serine.

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