ClinVar Miner

Submissions for variant NM_006073.4(TRDN):c.1055C>T (p.Pro352Leu)

dbSNP: rs754708708
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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 RCV002543645 SCV001504905 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2022-07-25 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 352 of the TRDN protein (p.Pro352Leu). This variant is present in population databases (rs754708708, gnomAD 0.03%). 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: 1015507). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV002412005 SCV002715510 uncertain significance Cardiovascular phenotype 2023-09-10 criteria provided, single submitter clinical testing The p.P352L variant (also known as c.1055C>T), located in coding exon 13 of the TRDN gene, results from a C to T substitution at nucleotide position 1055. The proline at codon 352 is replaced by leucine, an amino acid with similar properties. This amino acid position is 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 alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002476458 SCV002781803 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1; Catecholaminergic polymorphic ventricular tachycardia 5 2021-07-07 criteria provided, single submitter clinical testing

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