ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.-3A>G

gnomAD frequency: 0.00001  dbSNP: rs779160270
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Total submissions: 2
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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 RCV000216202 SCV000272549 uncertain significance not specified 2015-03-02 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The c.-3A>G variant in TRIOBP has not been previously reported in individuals with hearing loss, bu t has been identified in 1/7502 East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). This variant is located in th e 5'UTR. The nucleotide position at c.-3 is not conserved through species, with many mammals having a G at this position. Although this variant is more likel y to be benign, additional information is needed to fully assess its clinical si gnificance.
PreventionGenetics, part of Exact Sciences RCV003955278 SCV004767510 likely benign TRIOBP-related disorder 2019-07-08 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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