ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.1976G>A (p.Gly659Asp)

gnomAD frequency: 0.00001  dbSNP: rs756811179
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003238130 SCV002009705 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003772105 SCV004592021 uncertain significance Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2024-01-19 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 659 of the ERCC4 protein (p.Gly659Asp). This variant is present in population databases (rs756811179, gnomAD 0.004%). 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: 1319884). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Ambry Genetics RCV004980685 SCV005579317 uncertain significance Inborn genetic diseases 2024-11-11 criteria provided, single submitter clinical testing The c.1976G>A (p.G659D) alteration is located in exon 10 (coding exon 10) of the ERCC4 gene. This alteration results from a G to A substitution at nucleotide position 1976, causing the glycine (G) at amino acid position 659 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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