ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.2200G>A (p.Gly734Ser)

gnomAD frequency: 0.00001  dbSNP: rs753924297
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV002258699 SCV002537942 uncertain significance Xeroderma pigmentosum 2021-11-11 criteria provided, single submitter curation
Invitae RCV003095851 SCV003292356 uncertain significance Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2023-09-29 criteria provided, single submitter clinical testing This variant is present in population databases (rs753924297, gnomAD 0.01%). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 734 of the ERCC4 protein (p.Gly734Ser). This variant has not been reported in the literature in individuals affected with ERCC4-related conditions. ClinVar contains an entry for this variant (Variation ID: 1692883). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ERCC4 protein function. 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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