Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000594279 | SCV000705980 | pathogenic | not provided | 2017-02-06 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV004965594 | SCV005531884 | likely pathogenic | Inborn genetic diseases | 2024-10-25 | criteria provided, single submitter | clinical testing | The c.239+5G>A intronic alteration results from a G to A substitution 5 nucleotides after coding exon 3 of the VPS33B gene. Based on data from gnomAD, the A allele has an overall frequency of 0.001% (4/282864) total alleles studied. The highest observed frequency was 0.01% (2/19952) of East Asian alleles. This variant has been identified in conjunction with other VPS33B variants in individuals with cholestasis, mild arthrogryposis, ichthyosis, hip dislocation, fractures, renal tubulopathy, coarse facies, and/or hypogranular platelets; in at least one instance, the variants were identified in trans (Seo, 2015; Lee, 2019). This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice donor site. Based on the available evidence, this alteration is classified as likely pathogenic. |
| Fulgent Genetics, |
RCV005010578 | SCV005643428 | pathogenic | Arthrogryposis, renal dysfunction, and cholestasis 1; Keratoderma-ichthyosis-deafness syndrome, autosomal recessive; Cholestasis, progressive familial intrahepatic, 12 | 2024-04-04 | criteria provided, single submitter | clinical testing | |
| Molecular Diagnostics Laboratory, |
RCV002285164 | SCV002574972 | likely pathogenic | Arthrogryposis, renal dysfunction, and cholestasis 1 | no assertion criteria provided | clinical testing |