Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001244574 | SCV001417803 | likely pathogenic | Glycogen storage disease, type V | 2019-09-28 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Disruption of the initiator codon has been observed in individuals affected with glycogen storage disease, aka polyglucosan body myopathy (PMID: 7951262, 9506549, 25740218). This variant is not present in population databases (ExAC no frequency). This sequence change affects the initiator methionine of the PYGM mRNA. The next in-frame methionine is located at codon 92. |
Natera, |
RCV001244574 | SCV002092358 | likely pathogenic | Glycogen storage disease, type V | 2020-10-30 | no assertion criteria provided | clinical testing |