Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000478969 | SCV000564688 | uncertain significance | not provided | 2017-02-23 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the B3GALNT2 gene. The R192H variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R192H variant is observed in 12/6596 (0.2%) alleles from individuals of Finnish background, including multiple unrelated homozygous individuals, in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R192H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
| Invitae | RCV001084762 | SCV000772920 | benign | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | 2019-12-31 | criteria provided, single submitter | clinical testing |