ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.1009A>T (p.Lys337Ter) (rs1198241866)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665546 SCV000789688 likely pathogenic DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome B 2017-02-09 criteria provided, single submitter clinical testing
Invitae RCV000809201 SCV000949344 pathogenic not provided 2018-08-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys337*) in the ERCC6 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 been observed in an individual affected with Cockayne syndrome (PMID: 1339317). Loss-of-function variants in ERCC6 are known to be pathogenic (PMID: 9443879, 18628313). For these reasons, this variant has been classified as Pathogenic.

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