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

gnomAD frequency: 0.00064  dbSNP: rs150947392

Total submissions: 6

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	2023-11-02	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	2024-07-01	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
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).