ClinVar Miner

Submissions for variant NM_006073.4(TRDN):c.1976-6C>G

gnomAD frequency: 0.00002  dbSNP: rs368752139
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002560608 SCV002199931 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2022-04-28 criteria provided, single submitter clinical testing This sequence change falls in intron 38 of the TRDN gene. It does not directly change the encoded amino acid sequence of the TRDN protein. This variant is present in population databases (rs368752139, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with TRDN-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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