Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000012760 | SCV000799410 | likely pathogenic | Non-ketotic hyperglycinemia | 2018-04-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000012760 | SCV002247330 | pathogenic | Non-ketotic hyperglycinemia | 2021-11-08 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 11980). This premature translational stop signal has been observed in individual(s) with clinical features of non-ketotic hyperglycinemia (PMID: 10873393). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln192*) 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). |
Baylor Genetics | RCV000012760 | SCV004196863 | pathogenic | Non-ketotic hyperglycinemia | 2023-03-01 | criteria provided, single submitter | clinical testing | |
OMIM | RCV003230358 | SCV000032995 | pathogenic | Glycine encephalopathy 2 | 2000-06-01 | no assertion criteria provided | literature only |