ClinVar Miner

Submissions for variant NM_006073.4(TRDN):c.410C>T (p.Pro137Leu)

dbSNP: rs1242484153
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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 RCV002552462 SCV001199863 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2019-03-13 criteria provided, single submitter clinical testing 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 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"). This variant has not been reported in the literature in individuals with TRDN-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with leucine at codon 137 of the TRDN protein (p.Pro137Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine.
Ambry Genetics RCV002320235 SCV002626915 uncertain significance Cardiovascular phenotype 2020-06-16 criteria provided, single submitter clinical testing The p.P137L variant (also known as c.410C>T), located in coding exon 4 of the TRDN gene, results from a C to T substitution at nucleotide position 410. The proline at codon 137 is replaced by leucine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002489543 SCV002800745 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1; Catecholaminergic polymorphic ventricular tachycardia 5 2021-09-23 criteria provided, single submitter clinical testing

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