ClinVar Miner

Submissions for variant NM_006073.4(TRDN):c.1130A>G (p.Lys377Arg)

gnomAD frequency: 0.00001  dbSNP: rs750876367
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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 RCV000618878 SCV000738217 uncertain significance Cardiovascular phenotype 2017-10-31 criteria provided, single submitter clinical testing The p.K377R variant (also known as c.1130A>G), located in coding exon 14 of the TRDN gene, results from an A to G substitution at nucleotide position 1130. The lysine at codon 377 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is highly 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002531802 SCV001413524 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 377 of the TRDN protein (p.Lys377Arg). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and arginine. This variant is present in population databases (rs750876367, ExAC 0.004%). 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: 519532). 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: "Probably 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.
Revvity Omics, Revvity RCV003139946 SCV003823450 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 5 2022-08-11 criteria provided, single submitter clinical testing

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