ClinVar Miner

Submissions for variant NM_006073.4(TRDN):c.1471+5T>C

gnomAD frequency: 0.00005  dbSNP: rs374426512
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002529933 SCV000760674 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2021-08-28 criteria provided, single submitter clinical testing This sequence change falls in intron 23 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 of the intron. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with TRDN-related conditions. 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. 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.
Fulgent Genetics, Fulgent Genetics RCV002492994 SCV002781549 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1; Catecholaminergic polymorphic ventricular tachycardia 5 2021-09-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV003372780 SCV004097477 uncertain significance Cardiovascular phenotype 2023-07-17 criteria provided, single submitter clinical testing The c.1471+5T>C intronic variant results from a T to C substitution 5 nucleotides after coding exon 23 in the TRDN gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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