ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.1177G>A (p.Asp393Asn)

gnomAD frequency: 0.00011  dbSNP: rs369142382
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002509470 SCV000723446 uncertain significance not provided 2022-12-30 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002331058 SCV002635423 uncertain significance Cardiovascular phenotype 2021-12-03 criteria provided, single submitter clinical testing The p.D393N variant (also known as c.1177G>A), located in coding exon 13 of the TXNRD2 gene, results from a G to A substitution at nucleotide position 1177. The aspartic acid at codon 393 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is conserved. 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.
Invitae RCV002532765 SCV002991437 uncertain significance Primary dilated cardiomyopathy 2023-09-08 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 393 of the TXNRD2 protein (p.Asp393Asn). This variant is present in population databases (rs369142382, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with TXNRD2-related conditions. ClinVar contains an entry for this variant (Variation ID: 512478). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TXNRD2 protein function. 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.

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