ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.1037G>A (p.Arg346Gln)

gnomAD frequency: 0.00003  dbSNP: rs201349663
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000801619 SCV000941403 uncertain significance Primary dilated cardiomyopathy 2023-01-02 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 346 of the TXNRD2 protein (p.Arg346Gln). 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. 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. ClinVar contains an entry for this variant (Variation ID: 647175). This missense change has been observed in individual(s) with dilated cardiomyopathy (PMID: 31983221). This variant is present in population databases (rs201349663, gnomAD 0.06%).
Fulgent Genetics, Fulgent Genetics RCV002495074 SCV002775718 uncertain significance Glucocorticoid deficiency 5 2021-10-07 criteria provided, single submitter clinical testing

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