ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.889T>A (p.Tyr297Asn)

dbSNP: rs778480216
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000459953 SCV000548328 uncertain significance Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2016-11-04 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with asparagine at codon 297 of the ERCC4 protein (p.Tyr297Asn). The tyrosine residue is moderately conserved and there is a large physicochemical difference between tyrosine and asparagine. This variant is present in population databases (rs778480216, ExAC 0.002%) but has not been reported in the literature in individuals with an ERCC4-related disease. In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. 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 do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0").

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