Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000187571 | SCV000241165 | likely pathogenic | not provided | 2020-06-19 | criteria provided, single submitter | clinical testing | Nonsense variant in the C-terminus predicted to result in protein truncation, as the last 61 amino acids are lost, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (Stenson et al., 2014); Has not been previously published as pathogenic or benign to our knowledge |
| Invitae | RCV001378842 | SCV001576519 | likely pathogenic | Cerebral creatine deficiency syndrome | 2023-04-20 | 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. This variant disrupts the C-terminus of the GAMT protein. Other variant(s) that disrupt this region (p.Gln193*, p.Glu176Serfs*2, p.Glu176Glyfs*15) have been observed in individuals with GAMT-related conditions (PMID: 15108290, 19288536, 23234264). This suggests that this may be a clinically significant region of the protein. ClinVar contains an entry for this variant (Variation ID: 205586). This variant has not been reported in the literature in individuals affected with GAMT-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu176*) in the GAMT gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 61 amino acid(s) of the GAMT protein. |
| Natera, |
RCV001833115 | SCV002087016 | likely pathogenic | Deficiency of guanidinoacetate methyltransferase | 2017-06-16 | no assertion criteria provided | clinical testing |