ClinVar Miner

Submissions for variant NM_203486.3(DLL3):c.621C>A (p.Cys207Ter)

gnomAD frequency: 0.00001  dbSNP: rs771875570
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484500 SCV000567687 pathogenic not provided 2024-05-21 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; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 12746394, 25525159, 36506336)
Revvity Omics, Revvity RCV001782964 SCV002024087 likely pathogenic Spondylocostal dysostosis 1, autosomal recessive 2021-02-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000484500 SCV004298380 pathogenic not provided 2023-11-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys207*) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with DLL3-related conditions (PMID: 12746394). ClinVar contains an entry for this variant (Variation ID: 419705). For these reasons, this variant has been classified as Pathogenic.

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