ClinVar Miner

Submissions for variant NM_006073.4(TRDN):c.1630G>A (p.Asp544Asn)

dbSNP: rs1777254669
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001803515 SCV002048234 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 5 2021-01-20 criteria provided, single submitter clinical testing The TRDN c.1630G>A; p.Asp544Asn variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The aspartic acid at codon 544 is weakly conserved, and computational analyses predict that this variant is neutral (REVEL: 0.053). Due to limited information, the clinical significance of the p.Asp544Asn variant is uncertain at this time.
Labcorp Genetics (formerly Invitae), Labcorp RCV002542330 SCV003440706 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2022-08-09 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1330423). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The asparagine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with TRDN-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 544 of the TRDN protein (p.Asp544Asn).

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