Submissions for variant NM_018668.5(VPS33B):c.1148T>C (p.Ile383Thr)

gnomAD frequency: 0.00114  dbSNP: rs149121639

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000372554	SCV000394449	uncertain significance	Arthrogryposis, renal dysfunction, and cholestasis 1	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Eurofins Ntd Llc (ga)	RCV000729557	SCV000857230	likely benign	not specified	2017-10-06	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000899084	SCV001043333	likely benign	not provided	2024-12-24	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000899084	SCV002541301	uncertain significance	not provided	2021-05-28	criteria provided, single submitter	clinical testing
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center	RCV001252830	SCV001163973	uncertain significance	Microcephaly		no assertion criteria provided	research
PreventionGenetics, part of Exact Sciences	RCV003940242	SCV004753604	benign	VPS33B-related disorder	2020-06-29	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).