ClinVar Miner

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

gnomAD frequency: 0.00002  dbSNP: rs751838040
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
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 2023-03-28 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 significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: Nikfar2022[article], 33681529, 29572252, 19894250, 34724781)
Labcorp Genetics (formerly Invitae), Labcorp RCV000224212 SCV001387855 pathogenic not provided 2024-01-24 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. Loss-of-function variants in ERCC6 are known to be pathogenic (PMID: 18628313, 29572252). This variant is present in population databases (rs751838040, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with Cockayne syndrome (PMID: 19894250, 29572252). ClinVar contains an entry for this variant (Variation ID: 212733). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002485298 SCV002780996 pathogenic DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2; UV-sensitive syndrome 1; Age related macular degeneration 5; Premature ovarian failure 11; Lung cancer 2021-07-01 criteria provided, single submitter clinical testing
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV000193828 SCV000223926 likely pathogenic Cockayne syndrome type 2 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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.