ClinVar Miner

Submissions for variant NM_018668.5(VPS33B):c.1623_1641del (p.Arg542fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005015085 SCV005640515 likely pathogenic Arthrogryposis, renal dysfunction, and cholestasis 1; Keratoderma-ichthyosis-deafness syndrome, autosomal recessive; Cholestasis, progressive familial intrahepatic, 12 2024-01-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003893717 SCV004710735 likely pathogenic VPS33B-related disorder 2024-01-03 no assertion criteria provided clinical testing The VPS33B c.1623_1641del19 variant is predicted to result in a frameshift and premature protein termination (p.Arg542Thrfs*7). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.079% of alleles in individuals of Ashkenazi Jewish descent in gnomAD. Frameshift variants in VPS33B are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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