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 2017-11-30 criteria provided, single submitter clinical testing The Q156X pathogenic variant in the ERCC6 gene has been reported previously in an individual with Cockayne syndrome who also harbored another ERCC6 variant (Laugel et al., 2010). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q156X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret Q156X as a pathogenic variant.
Invitae RCV000224212 SCV001387855 pathogenic not provided 2019-08-21 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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