ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.2693A>G (p.Tyr898Cys)

gnomAD frequency: 0.00001  dbSNP: rs2032564211
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001962849 SCV002211090 uncertain significance Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2022-03-05 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 missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with ERCC4-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 898 of the ERCC4 protein (p.Tyr898Cys).
Ambry Genetics RCV004975938 SCV005579315 uncertain significance Inborn genetic diseases 2024-10-04 criteria provided, single submitter clinical testing The c.2693A>G (p.Y898C) alteration is located in exon 11 (coding exon 11) of the ERCC4 gene. This alteration results from a A to G substitution at nucleotide position 2693, causing the tyrosine (Y) at amino acid position 898 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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