ClinVar Miner

Submissions for variant NM_017646.6(TRIT1):c.334del (p.Arg112fs)

dbSNP: rs536000212
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000656419 SCV000778429 likely pathogenic Epileptic encephalopathy 2017-06-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen 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, Hospital Israelita Albert Einstein 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

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