ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.125A>G (p.Asp42Gly)

gnomAD frequency: 0.00001  dbSNP: rs752379459
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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 RCV001930722 SCV002193590 uncertain significance Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2021-06-18 criteria provided, single submitter clinical testing This variant is present in population databases (rs752379459, ExAC 0.002%). This sequence change replaces aspartic acid with glycine at codon 42 of the ERCC4 protein (p.Asp42Gly). The aspartic acid residue is moderately conserved and there is a moderate physicochemical difference between aspartic acid and glycine. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0").

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