Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000012758 | SCV000794781 | likely pathogenic | Non-ketotic hyperglycinemia | 2017-10-17 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000012758 | SCV001583208 | pathogenic | Non-ketotic hyperglycinemia | 2023-02-26 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 276 of the AMT protein (p.Asp276His). This variant is present in population databases (rs121964984, gnomAD 0.02%). This missense change has been observed in individual(s) with glycine encephalopathy (PMID: 16450403, 25231368, 26179960). ClinVar contains an entry for this variant (Variation ID: 11978). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt AMT protein function. Experimental studies have shown that this missense change affects AMT function (PMID: 23352163). For these reasons, this variant has been classified as Pathogenic. |
| Baylor Genetics | RCV000012758 | SCV004196224 | pathogenic | Non-ketotic hyperglycinemia | 2023-09-12 | criteria provided, single submitter | clinical testing | |
| OMIM | RCV003230356 | SCV000032993 | pathogenic | Glycine encephalopathy 2 | 1998-01-01 | no assertion criteria provided | literature only |