ClinVar Miner

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

dbSNP: rs536000212
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Total submissions: 6
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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 2025-01-01 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
Labcorp Genetics (formerly Invitae), Labcorp RCV001726297 SCV005730396 pathogenic not provided 2024-12-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg112Glufs*36) in the TRIT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TRIT1 are known to be pathogenic (PMID: 24901367, 28185376). This variant is present in population databases (rs536000212, gnomAD 0.07%). This premature translational stop signal has been observed in individual(s) with epilepsy (PMID: 30977854). ClinVar contains an entry for this variant (Variation ID: 545453). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV003493700 SCV004244334 pathogenic Combined oxidative phosphorylation deficiency 35 2024-02-05 no assertion criteria provided literature only

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