ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.2749T>C (p.Ter917Arg)

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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 RCV003051091 SCV003448622 uncertain significance Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2022-08-12 criteria provided, single submitter clinical testing 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. This variant is present in population databases (rs780318166, gnomAD 0.01%). This sequence change disrupts the translational stop signal of the ERCC4 mRNA. It is expected to extend the length of the ERCC4 protein by 83 additional amino acid residues.

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