ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.3073C>T (p.Arg1025Ter)

gnomAD frequency: 0.00006  dbSNP: rs776962899
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196643 SCV001367263 likely pathogenic Autosomal recessive nonsyndromic hearing loss 28 2019-08-14 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2.
GeneDx RCV001587220 SCV001826151 likely pathogenic not provided 2021-05-17 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge
Pars Genome Lab RCV001196643 SCV002513783 pathogenic Autosomal recessive nonsyndromic hearing loss 28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001587220 SCV003483614 pathogenic not provided 2022-07-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1025*) in the TRIOBP gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TRIOBP are known to be pathogenic (PMID: 16385457, 16385458, 20510926). This variant is present in population databases (rs776962899, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with TRIOBP-related conditions. ClinVar contains an entry for this variant (Variation ID: 930753). For these reasons, this variant has been classified as Pathogenic.

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