ClinVar Miner

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

gnomAD frequency: 0.00003  dbSNP: rs118204031
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion 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
OMIM RCV000001560 SCV000021715 pathogenic Autosomal recessive nonsyndromic hearing loss 28 2006-01-01 no assertion criteria provided literature only

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