ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.989A>C (p.Asp330Ala)

gnomAD frequency: 0.00003  dbSNP: rs777183693
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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 RCV001912761 SCV002176915 uncertain significance Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2021-09-20 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with alanine at codon 330 of the ERCC4 protein (p.Asp330Ala). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and alanine. 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"). This variant has not been reported in the literature in individuals affected with ERCC4-related conditions. This variant is present in population databases (rs777183693, ExAC 0.02%).

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