ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.1402del (p.Arg468fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003817876 SCV004607330 pathogenic Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2024-03-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg468Aspfs*25) 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 not present in population databases (gnomAD no frequency). 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.
Fulgent Genetics, Fulgent Genetics RCV005014980 SCV005645253 likely pathogenic Xeroderma pigmentosum, group F; XFE progeroid syndrome; Fanconi anemia complementation group Q 2024-04-24 criteria provided, single submitter clinical testing

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