ClinVar Miner

Submissions for variant NM_006073.4(TRDN):c.1672+6T>C

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002716041 SCV003005365 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2023-06-05 criteria provided, single submitter clinical testing 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 1963630). This variant has not been reported in the literature in individuals affected with TRDN-related conditions. This variant is present in population databases (rs755974871, gnomAD 0.02%). This sequence change falls in intron 29 of the TRDN gene. It does not directly change the encoded amino acid sequence of the TRDN protein. It affects a nucleotide within the consensus splice site.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003741322 SCV004565163 likely benign Catecholaminergic polymorphic ventricular tachycardia 5 2022-12-01 criteria provided, single submitter clinical testing

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