ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.2452C>G (p.Gln818Glu)

gnomAD frequency: 0.00001  dbSNP: rs774635437
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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 RCV002006264 SCV002274072 uncertain significance Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2021-08-01 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. This variant has not been reported in the literature in individuals affected with ERCC4-related conditions. This variant is present in population databases (rs774635437, ExAC 0.03%). This sequence change replaces glutamine with glutamic acid at codon 818 of the ERCC4 protein (p.Gln818Glu). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and glutamic acid.

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