ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.22C>T (p.Arg8Ter)

dbSNP: rs774510191
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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 RCV001389442 SCV001590814 pathogenic Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2020-02-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg8*) in the ERCC4 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ERCC4-related conditions. Loss-of-function variants in ERCC4 are known to be pathogenic (PMID: 9580660). For these reasons, this variant has been classified as Pathogenic.

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