Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Equipe Genetique des Anomalies du Developpement, |
RCV000656419 | SCV000778429 | likely pathogenic | Epileptic encephalopathy | 2017-06-01 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001726297 | SCV001961095 | pathogenic | not provided | 2023-04-01 | criteria provided, single submitter | clinical testing | TRIT1: PVS1, PM2 |
DASA | RCV001824154 | SCV002073740 | likely pathogenic | TRIT1 Deficiency | 2022-02-05 | criteria provided, single submitter | clinical testing | The c.334del;p.(Arg112Glufs*36) is a null frameshift variant (NMD) in the TRIT1 gene and predicts alteration of the nonsense-mediate decay - NMD is present in a relevant exon to the transcript - PVS1. The variant is present at low allele frequencies population databases (rs536000212– gnomAD 0.003353%; ABraOM 0.001281 frequency - http://abraom.ib.usp.br/) -PM2_supporting. In summary, the currently available evidence indicates that the variant is likely pathogenic. |
Laboratorio de Genetica e Diagnostico Molecular, |
RCV002252196 | SCV002523621 | pathogenic | See cases | 2020-04-02 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PVS1, PS4, PM2, PM3 |
OMIM | RCV003493700 | SCV004244334 | not provided | Combined oxidative phosphorylation deficiency 35 | 2024-02-05 | no assertion criteria provided | literature only |