ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.779_780dup (p.Arg261fs)

dbSNP: rs1254008304
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664845 SCV000788864 likely pathogenic DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2 2017-01-03 criteria provided, single submitter clinical testing
Invitae RCV002530637 SCV003213528 pathogenic not provided 2023-02-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg261Profs*69) in the ERCC6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ERCC6 are known to be pathogenic (PMID: 18628313, 29572252). This variant is present in population databases (no rsID available, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with ERCC6-related conditions. ClinVar contains an entry for this variant (Variation ID: 550175). For these reasons, this variant has been classified as Pathogenic.

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