ClinVar Miner

Submissions for variant NM_006073.4(TRDN):c.17C>T (p.Ala6Val)

gnomAD frequency: 0.00001  dbSNP: rs764897557
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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 RCV002519796 SCV000289129 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 6 of the TRDN protein (p.Ala6Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs764897557, ExAC 0.006%). 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: 240284). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000607773 SCV000713265 uncertain significance not specified 2017-05-26 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Ala6Val varia nt in TRDN has not been previously reported in individuals with cardiomyopathy, but has been identified in 4/125950 European chromosomes by the Genome Aggregati on Database (http://gnomad.broadinstitute.org; dbSNP rs764897557). This variant has been reported in ClinVar (Variation ID: 240284). Alanine (Ala) at position 6 is not well conserved in mammals or evolutionarily distant species, with Cape g olden mole and X. tropicalis carrying a valine (Val), raising the possibility th at a change at this position may be tolerated. Additional computational predicti on tools suggest that this variant may not impact the protein, though this infor mation is not predictive enough to rule out pathogenicity. In summary, while the clinical significance of the p.Ala6Val variant is uncertain, these data suggest that it is more likely to be benign.
Fulgent Genetics, Fulgent Genetics RCV002487077 SCV002787109 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1; Catecholaminergic polymorphic ventricular tachycardia 5 2021-08-31 criteria provided, single submitter clinical testing

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