ClinVar Miner

Submissions for variant NM_006073.4(TRDN):c.1472-12G>A

gnomAD frequency: 0.00036  dbSNP: rs375364108
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Total submissions: 3
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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 RCV000218470 SCV000272544 uncertain significance not specified 2015-12-21 criteria provided, single submitter clinical testing The c.1472-12G>A variant in TRDN has not been previously reported in individuals with cardiomyopathy, but has been identified in 20/65850 European chromosomes b y the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs375364108). This variant is located in the 3' splice region. Computational too ls do not suggest an impact to splicing. However, this information is not predic tive enough to rule out pathogenicity. In summary, the clinical significance of the c.1472-12G>A variant is uncertain.
GeneDx RCV001722169 SCV000723771 likely benign not provided 2020-12-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002518216 SCV002353219 benign Catecholaminergic polymorphic ventricular tachycardia 1 2025-01-23 criteria provided, single submitter clinical testing

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