Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000667775 | SCV000792279 | likely pathogenic | Non-ketotic hyperglycinemia | 2017-06-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000667775 | SCV001235596 | pathogenic | Non-ketotic hyperglycinemia | 2023-12-11 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser6Trpfs*89) in the AMT gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in AMT are known to be pathogenic (PMID: 16450403). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with AMT-related symptoms (PMID: 27362913). This variant is also known as c.13_16delGTAA. ClinVar contains an entry for this variant (Variation ID: 552502). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV000667775 | SCV004196896 | pathogenic | Non-ketotic hyperglycinemia | 2022-12-14 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000667775 | SCV002081737 | pathogenic | Non-ketotic hyperglycinemia | 2020-09-08 | no assertion criteria provided | clinical testing |