ClinVar Miner

Submissions for variant NM_018668.5(VPS33B):c.277C>T (p.Arg93Ter)

gnomAD frequency: 0.00005  dbSNP: rs368124813
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV002034578 SCV002020878 pathogenic not provided 2019-03-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002034578 SCV002246679 pathogenic not provided 2023-12-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg93*) in the VPS33B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in VPS33B are known to be pathogenic (PMID: 15052268, 16896922). This variant is present in population databases (rs368124813, gnomAD 0.005%). This premature translational stop signal has been observed in individual(s) with arthrogryposis, renal dysfunction, and cholestasis syndrome (PMID: 16896922). ClinVar contains an entry for this variant (Variation ID: 1323756). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005006046 SCV005643423 pathogenic Arthrogryposis, renal dysfunction, and cholestasis 1; Keratoderma-ichthyosis-deafness syndrome, autosomal recessive; Cholestasis, progressive familial intrahepatic, 12 2024-03-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003911012 SCV004723509 pathogenic VPS33B-related disorder 2024-02-15 no assertion criteria provided clinical testing The VPS33B c.277C>T variant is predicted to result in premature protein termination (p.Arg93*). This variant is reported to be causative for ACR (arthrogryposis, renal dysfunction, and cholestasis) syndrome (Gissen et al. 2006. PubMed ID: 16896922). This variant is reported in 0.0046% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Nonsense variants in VPS33B are expected to be pathogenic. This variant is interpreted as pathogenic.

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