Submissions for variant NM_001039141.3(TRIOBP):c.5224C>T (p.Leu1742Phe)

gnomAD frequency: 0.00129  dbSNP: rs200493962

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036826	SCV000060481	likely benign	not specified	2013-01-30	criteria provided, single submitter	clinical testing	p.Leu1742Phe in exon 11 of TRIOBP: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. O f note, the hedgehog, bushbaby and lesser Egyptian jerboa have a phenylalanine ( Phe) at this position despite high nearby amino acid conservation. In addition, this variant has been identified in 0.3% (37/11400) of European chromosomes by t he Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs2 00493962).
Ambry Genetics	RCV000622523	SCV000742756	uncertain significance	Inborn genetic diseases	2017-07-21	criteria provided, single submitter	clinical testing
Invitae	RCV000963732	SCV001110903	likely benign	not provided	2024-01-08	criteria provided, single submitter	clinical testing
GeneDx	RCV000963732	SCV001785084	likely benign	not provided	2020-10-19	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 16385458, 16385457, 27344577, 24853665)
CeGaT Center for Human Genetics Tuebingen	RCV000963732	SCV002544728	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	TRIOBP: BP4
PreventionGenetics, part of Exact Sciences	RCV003904907	SCV004722411	likely benign	TRIOBP-related condition	2022-09-27	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).