ClinVar Miner

Submissions for variant NM_018668.5(VPS33B):c.326G>A (p.Arg109His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003403002 SCV004119803 uncertain significance VPS33B-related disorder 2023-05-08 criteria provided, single submitter clinical testing The VPS33B c.326G>A variant is predicted to result in the amino acid substitution p.Arg109His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0040% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/15-91557065-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Fulgent Genetics, Fulgent Genetics RCV005012939 SCV005643419 uncertain significance Arthrogryposis, renal dysfunction, and cholestasis 1; Keratoderma-ichthyosis-deafness syndrome, autosomal recessive; Cholestasis, progressive familial intrahepatic, 12 2024-04-15 criteria provided, single submitter clinical testing

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