ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.3349C>T (p.Arg1117Ter)

gnomAD frequency: 0.00001  dbSNP: rs118204031
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV000001560 SCV002058585 pathogenic Autosomal recessive nonsyndromic hearing loss 28 2022-01-03 criteria provided, single submitter clinical testing Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant (PVS1_VS).The variant has been reported to be associated with TRIOBP related disorder (ClinVar ID: VCV000001495, PMID:16385457). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000032, PM2_M). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
GeneDx RCV002460876 SCV002756581 pathogenic not provided 2022-05-16 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; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 34868251, 27014650, 29197352, 16385457)
Fulgent Genetics, Fulgent Genetics RCV000001560 SCV002813834 pathogenic Autosomal recessive nonsyndromic hearing loss 28 2021-12-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002460876 SCV005840688 pathogenic not provided 2024-07-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1117*) 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 (rs118204031, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with deafness (PMID: 16385457). ClinVar contains an entry for this variant (Variation ID: 1495). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000001560 SCV000021715 pathogenic Autosomal recessive nonsyndromic hearing loss 28 2006-01-01 no assertion criteria provided literature only

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