Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Myriad Genetics, |
RCV001810469 | SCV002060271 | likely pathogenic | Cockayne syndrome type 2 | 2021-11-16 | criteria provided, single submitter | clinical testing | NM_000124.2(ERCC6):c.2287-2A>G is a canonical splice variant classified as likely pathogenic in the context of ERCC6-related disorders. c.2287-2A>G has been observed in cases with relevant disease (PMID: 19894250, 29572252). Functional assessments of this variant are not available in the literature. c.2287-2A>G has been observed in population frequency databases (gnomAD: NFE 0.003%). In summary, NM_000124.2(ERCC6):c.2287-2A>G is a canonical splice variant that has been observed more frequently in cases with the relevant disease than in healthy populations. Please note: this variant was assessed in the context of healthy population screening. |
Invitae | RCV001855460 | SCV002277945 | likely pathogenic | not provided | 2024-01-08 | criteria provided, single submitter | clinical testing | This sequence change affects an acceptor splice site in intron 11 of the ERCC6 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in a shortened protein product. This variant is present in population databases (rs754978734, gnomAD 0.003%). Disruption of this splice site has been observed in individuals with ERCC6-related conditions (PMID: 19894250, 29572252). ClinVar contains an entry for this variant (Variation ID: 551374). Studies have shown that disruption of this splice site results in skipping of exon 12, but is expected to preserve the integrity of the reading-frame (PMID: 19894250). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
Fulgent Genetics, |
RCV002477485 | SCV002794367 | pathogenic | DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2; UV-sensitive syndrome 1; Age related macular degeneration 5; Premature ovarian failure 11; Lung cancer | 2022-02-23 | criteria provided, single submitter | clinical testing |