ClinVar Miner

Submissions for variant NM_018668.5(VPS33B):c.398A>T (p.Tyr133Phe)

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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 RCV002767709 SCV003581135 uncertain significance Inborn genetic diseases 2021-09-22 criteria provided, single submitter clinical testing The c.398A>T (p.Y133F) alteration is located in exon 6 (coding exon 6) of the VPS33B gene. This alteration results from a A to T substitution at nucleotide position 398, causing the tyrosine (Y) at amino acid position 133 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005011123 SCV005643416 uncertain significance Arthrogryposis, renal dysfunction, and cholestasis 1; Keratoderma-ichthyosis-deafness syndrome, autosomal recessive; Cholestasis, progressive familial intrahepatic, 12 2024-02-19 criteria provided, single submitter clinical testing

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