ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.5058C>G (p.Pro1686=)

gnomAD frequency: 0.00123  dbSNP: rs113459040
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Total submissions: 4
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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 RCV000607045 SCV000711223 likely benign not specified 2018-01-30 criteria provided, single submitter clinical testing Pro1686Pro in Exon 09 of TRIOBP: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 0.4% (89/21602) of African chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.br oadinstitute.org; dbSNP rs113459040).
Labcorp Genetics (formerly Invitae), Labcorp RCV000923956 SCV001069455 benign not provided 2023-12-14 criteria provided, single submitter clinical testing
GeneDx RCV000923956 SCV001824381 likely benign not provided 2019-07-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003935635 SCV004756399 likely benign TRIOBP-related disorder 2019-06-03 no assertion criteria provided 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).

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