ClinVar Miner

Submissions for variant NM_006073.4(TRDN):c.2176C>T (p.Gln726Ter)

gnomAD frequency: 0.00001  dbSNP: rs1414689230
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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 RCV002551003 SCV002136724 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2021-10-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln726*) in the TRDN gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 4 amino acid(s) of the TRDN protein. This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with TRDN-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a 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.
Ambry Genetics RCV002425141 SCV002727279 uncertain significance Cardiovascular phenotype 2021-12-15 criteria provided, single submitter clinical testing The p.Q726* variant (also known as c.2176C>T), located in coding exon 41 of the TRDN gene, results from a C to T substitution at nucleotide position 2176. This changes the amino acid from a glutamine to a stop codon within coding exon 41. This alteration occurs at the 3' terminus of theTRDN gene, is not expected to trigger nonsense-mediated mRNAdecay, and only impacts the last four amino acids of the protein. The exact functional effect of this alteration is unknown. However, this alteration does not impact the predominant cardiac isoform of TRDN (NM_001256021.1; Kobayashi YM et al. J. Biol. Chem., 1999 Oct;274:28660-8). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002506917 SCV002816331 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1; Catecholaminergic polymorphic ventricular tachycardia 5 2021-09-14 criteria provided, single submitter clinical testing

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