ClinVar Miner

Submissions for variant NM_006073.4(TRDN):c.127A>G (p.Thr43Ala)

gnomAD frequency: 0.00002  dbSNP: rs367564871
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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 RCV002544876 SCV000818122 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces threonine with alanine at codon 43 of the TRDN protein (p.Thr43Ala). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and alanine. This variant is present in population databases (rs367564871, ExAC 0.004%). This variant has not been reported in the literature in individuals affected with TRDN-related conditions. 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: "Not Available"; 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 RCV002507199 SCV002796988 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1; Catecholaminergic polymorphic ventricular tachycardia 5 2021-11-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV004025052 SCV004969737 uncertain significance Cardiovascular phenotype 2024-01-29 criteria provided, single submitter clinical testing The c.127A>G (p.T43A) alteration is located in exon 2 (coding exon 2) of the TRDN gene. This alteration results from a A to G substitution at nucleotide position 127, causing the threonine (T) at amino acid position 43 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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