ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.1195C>T (p.Arg399Ter)

dbSNP: rs750078356
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523834 SCV000619224 pathogenic not provided 2020-12-02 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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV004017663 SCV004848770 likely pathogenic Rare genetic deafness 2022-08-26 criteria provided, single submitter clinical testing The p.Arg399X variant in TRIOBP has not beed reported in individuals with hearing loss but it has been reported in ClinVar (Variation ID 450619) and was absent from large population studies. This nonsense variant leads to a premature termination codon at position 399, which is predicted to lead to a truncated or absent protein. Loss of function of the TRIOBP gene is an established disease mechanism in autosomal recessive hearing loss. In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely pathogenic for autosomal recessive hearing loss. ACMG/AMP Criteria applied: PM2_supporting, PVS1.
Dr.Nikuei Genetic Center RCV004586759 SCV005073694 pathogenic Autosomal recessive nonsyndromic hearing loss 28 no assertion criteria provided clinical testing

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