ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.856C>T (p.Gln286Ter)

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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 RCV003781269 SCV004573296 pathogenic Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2023-11-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln286*) in the ERCC4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ERCC4 are known to be pathogenic (PMID: 9580660). This variant is present in population databases (rs750971687, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with ERCC4-related conditions. For these reasons, this variant has been classified as Pathogenic.

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