ClinVar Miner

Submissions for variant NM_003590.5(CUL3):c.1549_1552del (p.Ser517fs)

dbSNP: rs1692335353
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV001171551 SCV001334339 likely pathogenic not provided 2019-12-12 criteria provided, single submitter clinical testing
Provincial Medical Genetics Program of British Columbia, University of British Columbia RCV002463785 SCV002605331 likely pathogenic Abnormal cardiovascular system morphology 2022-07-25 criteria provided, single submitter clinical testing
Invitae RCV001171551 SCV004633818 pathogenic not provided 2023-05-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser517Profs*23) in the CUL3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CUL3 are known to be pathogenic (PMID: 32341456). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CUL3-related conditions. ClinVar contains an entry for this variant (Variation ID: 916050). For these reasons, this variant has been classified as Pathogenic.

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