Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000665459 | SCV000789589 | likely pathogenic | DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2 | 2017-02-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001855443 | SCV002250846 | pathogenic | not provided | 2023-11-27 | criteria provided, single submitter | clinical testing | This sequence change affects a donor splice site in intron 11 of the ERCC6 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and 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). Disruption of this splice site has been observed in individuals with clinical features of Cockayne syndrome (PMID: 29572252; Invitae). ClinVar contains an entry for this variant (Variation ID: 550657). Studies have shown that disruption of this splice site is associated with altered splicing resulting in unknown protein product impact (PMID: 29572252). For these reasons, this variant has been classified as Pathogenic. |