Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000523818 | SCV000617959 | uncertain significance | not provided | 2017-07-26 | criteria provided, single submitter | clinical testing | The G173R variant in the PYGM gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The G173R variant is observed in 17/10398 (0.16%) alleles from individuals of African background in the ExAC dataset (Lek et al., 2016). The G173R 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. This substitution occurs at a position that is conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret G173R as a variant of uncertain significance. |
Invitae | RCV000812757 | SCV000953080 | likely benign | Glycogen storage disease, type V | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000812757 | SCV003810417 | uncertain significance | Glycogen storage disease, type V | 2023-03-13 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000812757 | SCV002092345 | uncertain significance | Glycogen storage disease, type V | 2019-10-28 | no assertion criteria provided | clinical testing |