ClinVar Miner

Submissions for variant NM_006073.4(TRDN):c.196G>T (p.Val66Phe)

gnomAD frequency: 0.00003  dbSNP: rs372169818
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617318 SCV000737472 uncertain significance Cardiovascular phenotype 2023-11-14 criteria provided, single submitter clinical testing The p.V66F variant (also known as c.196G>T), located in coding exon 2 of the TRDN gene, results from a G to T substitution at nucleotide position 196. The valine at codon 66 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is well 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002531768 SCV001390580 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2022-08-10 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 66 of the TRDN protein (p.Val66Phe). This variant is present in population databases (rs372169818, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with TRDN-related conditions. ClinVar contains an entry for this variant (Variation ID: 519227). 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: "Possibly Damaging"; 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.
Fulgent Genetics, Fulgent Genetics RCV002483713 SCV002786323 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1; Catecholaminergic polymorphic ventricular tachycardia 5 2021-10-04 criteria provided, single submitter clinical testing

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