ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.1070T>C (p.Ile357Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003086723 SCV003481397 uncertain significance Primary dilated cardiomyopathy 2022-05-21 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with TXNRD2-related conditions. This variant is present in population databases (rs375498636, gnomAD 0.01%). 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. This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 357 of the TXNRD2 protein (p.Ile357Thr).
Ambry Genetics RCV004073215 SCV005024905 uncertain significance Cardiovascular phenotype 2023-11-11 criteria provided, single submitter clinical testing The p.I357T variant (also known as c.1070T>C), located in coding exon 12 of the TXNRD2 gene, results from a T to C substitution at nucleotide position 1070. The isoleucine at codon 357 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. 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.

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