ClinVar Miner

Submissions for variant NM_018668.5(VPS33B):c.1180A>G (p.Ile394Val)

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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 RCV005017231 SCV005643375 uncertain significance Arthrogryposis, renal dysfunction, and cholestasis 1; Keratoderma-ichthyosis-deafness syndrome, autosomal recessive; Cholestasis, progressive familial intrahepatic, 12 2024-02-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004732156 SCV005338853 uncertain significance VPS33B-related disorder 2024-05-06 no assertion criteria provided clinical testing The VPS33B c.1180A>G variant is predicted to result in the amino acid substitution p.Ile394Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0058% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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