ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.2105G>A (p.Arg702Gln)

gnomAD frequency: 0.00003  dbSNP: rs144058769
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001901997 SCV002133904 uncertain significance Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2021-06-05 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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 with ERCC4-related conditions. This variant is present in population databases (rs144058769, ExAC 0.01%). This sequence change replaces arginine with glutamine at codon 702 of the ERCC4 protein (p.Arg702Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine.

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