ClinVar Miner

Submissions for variant NM_001375524.1(TRRAP):c.4405-5A>G

gnomAD frequency: 0.00002  dbSNP: rs782409632
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001773255 SCV002001693 uncertain significance not provided 2020-03-04 criteria provided, single submitter clinical testing In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters 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
Labcorp Genetics (formerly Invitae), Labcorp RCV001773255 SCV003475392 benign not provided 2025-01-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004552014 SCV004735642 likely benign TRRAP-related disorder 2020-07-20 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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