ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.2287-2A>G

gnomAD frequency: 0.00002  dbSNP: rs754978734
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. 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, 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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.