ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.1019G>A (p.Arg340Gln)

gnomAD frequency: 0.00002  dbSNP: rs753728949
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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 RCV001068176 SCV001233269 uncertain significance Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2022-04-11 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ERCC4-related conditions. This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 340 of the ERCC4 protein (p.Arg340Gln). This variant is present in population databases (rs753728949, gnomAD 0.01%). ClinVar contains an entry for this variant (Variation ID: 861612). 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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.

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