ClinVar Miner

Submissions for variant NM_006073.4(TRDN):c.1766C>A (p.Pro589His)

gnomAD frequency: 0.00001  dbSNP: rs371717903
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002547051 SCV001540307 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2020-09-05 criteria provided, single submitter clinical testing This sequence change replaces proline with histidine at codon 589 of the TRDN protein (p.Pro589His). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and histidine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with TRDN-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The histidine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 RCV002499692 SCV002812920 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1; Catecholaminergic polymorphic ventricular tachycardia 5 2021-09-06 criteria provided, single submitter clinical testing

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