ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.19G>A (p.Ala7Thr)

dbSNP: rs771117594
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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 RCV000688763 SCV000816387 uncertain significance Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2022-09-28 criteria provided, single submitter clinical testing This variant is present in population databases (rs771117594, gnomAD 0.04%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 7 of the ERCC4 protein (p.Ala7Thr). This variant has not been reported in the literature in individuals affected with ERCC4-related conditions. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 568412).

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