ClinVar Miner

Submissions for variant NM_203486.3(DLL3):c.366_378del (p.Ile123fs)

dbSNP: rs2079604821
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001780936 SCV002024088 likely pathogenic Spondylocostal dysostosis 1, autosomal recessive 2021-02-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001868860 SCV002219277 pathogenic not provided 2023-10-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile123Glyfs*5) 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 not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with DLL3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1324231). For these reasons, this variant has been classified as Pathogenic.

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