ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.5767G>A (p.Ala1923Thr)

gnomAD frequency: 0.00064  dbSNP: rs150947392
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155307 SCV000204993 benign not specified 2017-07-06 criteria provided, single submitter clinical testing p.Ala1923Thr in exon 16 of TRIOBP: This variant is not expected to have clinica l significance because it has been identified in 0.8% (75/9030) of Ashkenazi Jew ish chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadi nstitute.org; dbSNP rs150947392). In addition, it is not conserved across specie s, including mammals. Of note, bushbaby, mouse, rat, kangaroo rat, and sloth hav e a threonine (Thr) at this position despite high nearby amino acid conservation .
Labcorp Genetics (formerly Invitae), Labcorp RCV001517721 SCV001726283 benign not provided 2024-09-29 criteria provided, single submitter clinical testing
GeneDx RCV001517721 SCV001756391 likely benign not provided 2020-10-06 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29197352, 28089734, 26969326)
CeGaT Center for Human Genetics Tuebingen RCV001517721 SCV004147868 likely benign not provided 2025-03-01 criteria provided, single submitter clinical testing TRIOBP: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV001517721 SCV005206438 likely benign not provided criteria provided, single submitter not provided
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005394528 SCV006053156 benign Autosomal recessive nonsyndromic hearing loss 28 2020-07-15 criteria provided, single submitter research
PreventionGenetics, part of Exact Sciences RCV003937459 SCV004747837 benign TRIOBP-related disorder 2024-09-11 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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