ClinVar Miner

Submissions for variant NM_018668.5(VPS33B):c.319C>T (p.Arg107Ter)

dbSNP: rs1057519063
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002521490 SCV003441699 pathogenic not provided 2022-09-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 375326). This variant is also known as p.Arg97X. This premature translational stop signal has been observed in individual(s) with arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome (PMID: 16896922). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg107*) 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).
Fulgent Genetics, Fulgent Genetics RCV005010317 SCV005643421 pathogenic Arthrogryposis, renal dysfunction, and cholestasis 1; Keratoderma-ichthyosis-deafness syndrome, autosomal recessive; Cholestasis, progressive familial intrahepatic, 12 2024-04-14 criteria provided, single submitter clinical testing

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