Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| New York Genome Center | RCV001591720 | SCV001815766 | uncertain significance | Spinocerebellar ataxia, autosomal recessive 22 | 2020-10-23 | criteria provided, single submitter | clinical testing | The inherited c.544G>A(p.Val182Ile)missense variant (also in the splice region) in exon 5 of 28 of VWA3B has not been reported in affected individuals in the available literature. This variant is present in gnomADv3 at a low frequency (75/143304alleles, allele frequency = 0.0005234; no homozygotes) indicating it is not a common benign variant in the populations represented in this database. In silico predictors suggest this variant is Benign (REVEL; score: 0.08699) and Tolerated (SIFT; score: 0.206). Given the evidence regarding its pathogenicity, the c.544G>A (p.Val182Ile) variant identified in the VWA3B gene is reported as a Variant of Uncertain Significance. |
| Ambry Genetics | RCV004681229 | SCV005176831 | uncertain significance | not specified | 2024-04-20 | criteria provided, single submitter | clinical testing | The c.544G>A (p.V182I) alteration is located in exon 5 (coding exon 4) of the VWA3B gene. This alteration results from a G to A substitution at nucleotide position 544, causing the valine (V) at amino acid position 182 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |