ClinVar Miner

Submissions for variant NM_018668.5(VPS33B):c.1509dup (p.Lys504fs)

gnomAD frequency: 0.00001  dbSNP: rs1209349503
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV002052135 SCV002318619 pathogenic Arthrogryposis, renal dysfunction, and cholestasis 1 2022-03-22 criteria provided, single submitter clinical testing Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. It is not observed in the gnomAD v2.1.1 dataset. This variant has been reported to be associated with VPS33B related disorder (PMID:18853461). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
OMIM RCV002052135 SCV002564412 pathogenic Arthrogryposis, renal dysfunction, and cholestasis 1 2022-08-18 no assertion criteria provided literature only
OMIM RCV002276993 SCV002564418 pathogenic Cholestasis, progressive familial intrahepatic, 12 2022-08-18 no assertion criteria provided literature only

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