ClinVar Miner

Submissions for variant NM_018668.5(VPS33B):c.1363G>A (p.Val455Met)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002776739 SCV003568503 uncertain significance Inborn genetic diseases 2021-08-17 criteria provided, single submitter clinical testing The c.1363G>A (p.V455M) alteration is located in exon 18 (coding exon 18) of the VPS33B gene. This alteration results from a G to A substitution at nucleotide position 1363, causing the valine (V) at amino acid position 455 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005011121 SCV005642635 uncertain significance Arthrogryposis, renal dysfunction, and cholestasis 1; Keratoderma-ichthyosis-deafness syndrome, autosomal recessive; Cholestasis, progressive familial intrahepatic, 12 2024-06-13 criteria provided, single submitter clinical testing

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