Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000666618 | SCV000790939 | likely pathogenic | DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2 | 2017-04-14 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV001381278 | SCV001579599 | pathogenic | not provided | 2023-10-04 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln21*) 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 variant has not been reported in the literature in individuals affected with ERCC6-related conditions. ClinVar contains an entry for this variant (Variation ID: 551535). For these reasons, this variant has been classified as Pathogenic. |
| DASA | RCV002221572 | SCV002499408 | pathogenic | ERCC6-Related Disorders | 2022-04-10 | criteria provided, single submitter | clinical testing | The c.61C>T;p.(Gln21*) variant creates a premature translational stop signal in the ERCC6 gene. It is expected to result in an absent or disrupted protein product -PVS1. This sequence change has been observed in affected individual(s) and ClinVar contains an entry for this variant (ClinVar ID: 551535) - PS4. This variant is not present in population databases (rs577021605- gnomAD; ABraOM no frequency - http://abraom.ib.usp.br) - PM2. In summary, the currently available evidence indicates that the variant is pathogenic. |
| Laboratorio de Genetica e Diagnostico Molecular, |
RCV002252204 | SCV002523430 | pathogenic | See cases | 2020-01-09 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PVS1, PS4, PM2 |