Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Fulgent Genetics, |
RCV000049653 | SCV002780612 | likely pathogenic | Non-ketotic hyperglycinemia | 2022-01-12 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000049653 | SCV003844613 | likely pathogenic | Non-ketotic hyperglycinemia | 2023-02-13 | criteria provided, single submitter | clinical testing | Variant summary: AMT c.982_983delinsT (p.Ala328SerfsX10) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic within ClinVar (e.g. c.1209del [p.Lys403fs], c.996dup [p.His333fs]). The variant was absent in 251188 control chromosomes (gnomAD). c.982_983delinsT has been reported in the literature in at least one compound heterozygous individual affected with Glycine Encephalopathy (Non-Ketotic Hyperglycinemia, Kure_2006). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One ClinVar submitter has assessed the variant since 2014: the variant was classified as likely pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic. |
| Juha Muilu Group; Institute for Molecular Medicine Finland |
RCV000049653 | SCV000082060 | probable-pathogenic | Non-ketotic hyperglycinemia | no assertion criteria provided | not provided | Converted during submission to Likely pathogenic. |