ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.2923C>T (p.Arg975Ter) (rs772801089)

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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 RCV000502392 SCV000594581 pathogenic Cockayne syndrome B 2016-08-08 criteria provided, single submitter clinical testing
Invitae RCV001246953 SCV001420348 pathogenic not provided 2019-10-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg975*) in the ERCC6 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs772801089, ExAC 0.005%). This variant has been observed in an individual affected with Cockayne syndrome (PMID: 29572252). ClinVar contains an entry for this variant (Variation ID: 435082). 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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