ClinVar Miner

Submissions for variant NM_203486.3(DLL3):c.712C>T (p.Arg238Ter)

gnomAD frequency: 0.00001  dbSNP: rs104894675
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001558657 SCV001780652 pathogenic not provided 2021-09-07 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; Observed with a second DLL3 variant in an individual with spondylocostal dysostosis in the published literature (Bonafe et al., 2003); This variant is associated with the following publications: (PMID: 12791036, 23496422, 17213840, 25525159)
Labcorp Genetics (formerly Invitae), Labcorp RCV001558657 SCV002146403 pathogenic not provided 2024-01-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg238*) in the DLL3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DLL3 are known to be pathogenic (PMID: 12746394). This variant is present in population databases (rs104894675, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with spondylocostal dysostosis (PMID: 12791036). ClinVar contains an entry for this variant (Variation ID: 6833). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000007235 SCV004040808 pathogenic Spondylocostal dysostosis 1, autosomal recessive 2023-05-05 criteria provided, single submitter clinical testing
OMIM RCV000007235 SCV000027431 pathogenic Spondylocostal dysostosis 1, autosomal recessive 2003-07-01 no assertion criteria provided literature only

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.