Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Claritas Genomics | RCV000170387 | SCV000222805 | pathogenic | Cockayne syndrome type 2 | 2011-07-15 | criteria provided, single submitter | clinical testing | |
| Counsyl | RCV000671320 | SCV000796282 | likely pathogenic | DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2 | 2017-12-06 | criteria provided, single submitter | clinical testing | |
| Ce |
RCV001092478 | SCV001249004 | pathogenic | not provided | 2018-12-01 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV001092478 | SCV001585614 | pathogenic | not provided | 2023-04-20 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 190168). This premature translational stop signal has been observed in individual(s) with Cockayne syndrome (PMID: 9443879, 19894250). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys1203Argfs*33) 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). |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV004700525 | SCV005205387 | pathogenic | Cerebrooculofacioskeletal syndrome 1 | 2024-06-03 | criteria provided, single submitter | clinical testing | Variant summary: ERCC6 c.3607_3608ins26 (p.Lys1203ArgfsX33) results in a premature termination codon, predicted to cause absence of the protein due to nonsense mediated decay, which is a commonly known mechanism for disease. The variant was absent in 251446 control chromosomes. c.3607_3608ins26 has been reported in the literature in at-least one individual affected with Cerebrooculofacioskeletal Syndrome 1 (Mallery_1998). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication have been ascertained in the context of this evaluation (PMID: 9443879). ClinVar contains an entry for this variant (Variation ID: 190168). Based on the evidence outlined above, the variant was classified as pathogenic. |