ClinVar Miner

Submissions for variant NM_000082.3(ERCC8):c.600dup (p.Ile201fs) (rs1468231556)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668715 SCV000793360 likely pathogenic Cockayne syndrome type A 2017-08-23 criteria provided, single submitter clinical testing
Invitae RCV001385994 SCV001586062 pathogenic not provided 2020-02-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile201Tyrfs*8) in the ERCC8 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 reported as homozygous in an individual affected with Cockayne syndrome (PMID: 22829088). Loss-of-function variants in ERCC8 are known to be pathogenic (PMID: 19894250, 21108394). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001385994 SCV001787613 pathogenic not provided 2020-01-22 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 31589614, 22829088)

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