ClinVar Miner

Submissions for variant NM_006073.4(TRDN):c.335A>T (p.Asp112Val)

gnomAD frequency: 0.00001  dbSNP: rs772376488
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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 RCV002557820 SCV002196307 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2022-06-26 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 112 of the TRDN protein (p.Asp112Val). This variant is present in population databases (rs772376488, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with TRDN-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). 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 RCV002324333 SCV002606284 uncertain significance Cardiovascular phenotype 2020-09-17 criteria provided, single submitter clinical testing The p.D112V variant (also known as c.335A>T), located in coding exon 3 of the TRDN gene, results from an A to T substitution at nucleotide position 335. The aspartic acid at codon 112 is replaced by valine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002507047 SCV002814182 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1; Catecholaminergic polymorphic ventricular tachycardia 5 2021-11-02 criteria provided, single submitter clinical testing
GeneDx RCV003125986 SCV003803515 uncertain significance not provided 2022-08-10 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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