ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.122C>G (p.Ala41Gly)

gnomAD frequency: 0.00001  dbSNP: rs751095195
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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 RCV001201434 SCV001372501 uncertain significance Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2022-07-27 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 41 of the ERCC4 protein (p.Ala41Gly). This variant is present in population databases (rs751095195, gnomAD 0.002%). 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: 933259). This variant has not been reported in the literature in individuals affected with ERCC4-related conditions.

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