Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Claritas Genomics | RCV000170368 | SCV000222783 | likely pathogenic | Cockayne syndrome type 2 | 2013-08-26 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV000170368 | SCV000807214 | pathogenic | Cockayne syndrome type 2 | 2017-09-01 | criteria provided, single submitter | clinical testing | This mutation has been previously reported as disease-causing and was found once in our laboratory in trans with another pathogenic mutation in a 8-month-old female with global delays, microcephaly, congenital cataracts, failure to thrive, hypotonia, micrognathia |
| Invitae | RCV001850425 | SCV002152365 | pathogenic | not provided | 2023-09-27 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Lys506Asnfs*37) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of Cockayne syndrome (PMID: 9443879, 29572252). ClinVar contains an entry for this variant (Variation ID: 190150). For these reasons, this variant has been classified as Pathogenic. |
| OMIM | RCV000170368 | SCV000021927 | pathogenic | Cockayne syndrome type 2 | 1998-01-01 | no assertion criteria provided | literature only |