ClinVar Miner

Submissions for variant NM_006073.4(TRDN):c.1708A>G (p.Ile570Val)

gnomAD frequency: 0.00003  dbSNP: rs915231524
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002525568 SCV000548534 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2023-09-12 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.001%). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 570 of the TRDN protein (p.Ile570Val). This variant has not been reported in the literature in individuals affected with TRDN-related conditions. 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TRDN protein function. ClinVar contains an entry for this variant (Variation ID: 408733).
GeneDx RCV001770341 SCV001992843 uncertain significance not provided 2019-06-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002402261 SCV002710563 uncertain significance Cardiovascular phenotype 2023-09-27 criteria provided, single submitter clinical testing The p.I570V variant (also known as c.1708A>G), located in coding exon 30 of the TRDN gene, results from an A to G substitution at nucleotide position 1708. The isoleucine at codon 570 is replaced by valine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003741188 SCV004563588 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 5 2023-11-11 criteria provided, single submitter clinical testing The TRDN c.1708A>G; p.Ile570Val variant (rs915231524), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 408733). This variant is found only on one allele in the Genome Aggregation Database (v2.1.1), indicating it is not a common polymorphism. Computational analyses predict that this variant is neutral (REVEL: 0.017). Due to limited information, the clinical significance of this variant is uncertain at this time.

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