ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.579G>A (p.Trp193Ter)

gnomAD frequency: 0.00014  dbSNP: rs753325454
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001817844 SCV002069316 pathogenic not provided 2019-01-03 criteria provided, single submitter clinical testing DNA sequence analysis of the ERCC4 gene demonstrated a pathogenic sequence change, c.579G>A, which results in the creation of a premature stop codon at amino acid position 193, p.Trp193*. This pathogenic sequence change is predicted to result in an abnormal transcript, which may be degraded, or may lead to the production of a truncated ERCC4 protein with potentially abnormal function.
Invitae RCV001869789 SCV002241309 pathogenic Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2022-11-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1338473). This variant has not been reported in the literature in individuals affected with ERCC4-related conditions. This variant is present in population databases (rs753325454, gnomAD 0.03%). This sequence change creates a premature translational stop signal (p.Trp193*) 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).

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