ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.1376C>A (p.Ser459Ter)

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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 RCV003781677 SCV004574246 pathogenic Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2024-02-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser459*) 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 (rs201179693, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with xeroderma pigmentosum (PMID: 29892709). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005014966 SCV005645251 likely pathogenic Xeroderma pigmentosum, group F; XFE progeroid syndrome; Fanconi anemia complementation group Q 2024-04-07 criteria provided, single submitter clinical testing

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