ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.6771G>A (p.Gln2257=)

gnomAD frequency: 0.00058  dbSNP: rs200793989
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Total submissions: 5
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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 RCV000215313 SCV000270953 likely benign not specified 2015-12-22 criteria provided, single submitter clinical testing p.Gln2257Gln in Exon 21 of TRIOBP: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wi thin the splice consensus sequence, and has been identified in 0.1% (55/53588) o f European chromosomes by the Exome Aggregation Consortium (http://exac.broadins titute.org/; dbSNP rs200793989).
Eurofins Ntd Llc (ga) RCV000731421 SCV000859238 uncertain significance not provided 2018-01-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000731421 SCV001064207 likely benign not provided 2023-12-28 criteria provided, single submitter clinical testing
GeneDx RCV000731421 SCV001803225 uncertain significance not provided 2023-11-30 criteria provided, single submitter clinical testing In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003947715 SCV004774985 likely benign TRIOBP-related disorder 2024-07-12 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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