ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.466C>T (p.Gln156Ter) (rs751838040)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224212 SCV000280636 pathogenic not provided 2015-05-14 criteria provided, single submitter clinical testing
GeneDx RCV000224212 SCV000329858 pathogenic not provided 2020-05-19 criteria provided, single submitter clinical testing Nonsense 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: 19894250)
Invitae RCV000224212 SCV001387855 pathogenic not provided 2020-07-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln156*) in the ERCC6 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs751838040, ExAC 0.001%). This variant has been observed in individuals affected with Cockayne syndrome (PMID: 19894250, 29572252). ClinVar contains an entry for this variant (Variation ID: 212733). Loss-of-function variants in ERCC6 are known to be pathogenic (PMID: 9443879, 18628313). For these reasons, this variant has been classified as Pathogenic.
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV000193828 SCV000223926 likely pathogenic Cockayne syndrome B 2014-08-12 no assertion criteria provided clinical testing
Counsyl RCV000984001 SCV000790594 likely pathogenic DE SANCTIS-CACCHIONE SYNDROME 2017-03-29 no assertion criteria provided clinical testing

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