ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.5317C>T (p.Arg1773Ter)

gnomAD frequency: 0.00003  dbSNP: rs368112491
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001774179 SCV001994706 uncertain significance not provided 2019-03-26 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; 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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV004017860 SCV004848771 likely pathogenic Rare genetic deafness 2022-11-03 criteria provided, single submitter clinical testing The p.Arg1773X variant in TRIOBP has not been reported in individuals with disease and has been identified in 4/41244 African chromosomes by gnomAD (https://gnomad.broadinstitute.org/). This nonsense variant leads to a premature termination codon at position 1773, 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.

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