Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000428378 | SCV000536593 | uncertain significance | not provided | 2017-01-27 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the PLEKHG5 gene. The G893R variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The G893R variant is observed in 22/6622 (0.3%) alleles from individuals of African background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server)]. The G893R variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved and in silico analysis predicts this variant likely does not alter 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 | RCV001080412 | SCV001019660 | likely benign | Distal spinal muscular atrophy, autosomal recessive 4; Charcot-Marie-Tooth disease, recessive intermediate c | 2019-12-31 | criteria provided, single submitter | clinical testing |