ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.1039C>T (p.Arg347Ter)

gnomAD frequency: 0.00010  dbSNP: rs118204026
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000727382 SCV000708022 pathogenic not provided 2017-05-05 criteria provided, single submitter clinical testing
Invitae RCV000727382 SCV002244599 pathogenic not provided 2023-07-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg347*) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1490). This premature translational stop signal has been observed in individual(s) with nonsyndromic deafness (PMID: 16385458). This variant is present in population databases (rs118204026, gnomAD 0.01%).
3billion RCV000001555 SCV002318557 pathogenic Autosomal recessive nonsyndromic hearing loss 28 2022-03-22 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. This variant has been reported as pathogenic (ClinVar ID: VCV000001490, PMID:16385458). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.0000399). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
GeneDx RCV000727382 SCV002820484 pathogenic not provided 2022-07-15 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; This variant is associated with the following publications: (PMID: 25525159, 30833958, 32747562, 33121024, 16385458, 32279305)
OMIM RCV000001555 SCV000021710 pathogenic Autosomal recessive nonsyndromic hearing loss 28 2006-01-01 no assertion criteria provided literature only
Hereditary Research Laboratory, Bethlehem University RCV000001555 SCV000538125 pathogenic Autosomal recessive nonsyndromic hearing loss 28 2016-06-04 no assertion criteria provided research Severe to Profound

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