Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000666614 | SCV000790933 | likely pathogenic | DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2 | 2017-04-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001731863 | SCV001982610 | pathogenic | not provided | 2021-10-05 | 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; This variant is associated with the following publications: (PMID: 24700531, 25356239) |
Invitae | RCV001731863 | SCV002233557 | pathogenic | not provided | 2021-12-12 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg176*) 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 (rs771781694, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with clinical features of Cockayne syndrome (PMID: 25356239, 29572252). ClinVar contains an entry for this variant (Variation ID: 551532). For these reasons, this variant has been classified as Pathogenic. |