ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.1817A>T (p.Tyr606Phe)

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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 RCV002706243 SCV002995173 uncertain significance Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2022-08-19 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. 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: "Probably Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals affected with ERCC4-related conditions. This variant is present in population databases (rs189463122, gnomAD 0.003%). This sequence change replaces tyrosine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 606 of the ERCC4 protein (p.Tyr606Phe).
Ambry Genetics RCV002720479 SCV003552322 uncertain significance Inborn genetic diseases 2022-05-10 criteria provided, single submitter clinical testing The c.1817A>T (p.Y606F) alteration is located in exon 9 (coding exon 9) of the ERCC4 gene. This alteration results from a A to T substitution at nucleotide position 1817, causing the tyrosine (Y) at amino acid position 606 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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