ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.1090C>T (p.Arg364Trp)

gnomAD frequency: 0.00002  dbSNP: rs772667712
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001891298 SCV002160386 uncertain significance Primary dilated cardiomyopathy 2023-05-31 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. 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 expected to disrupt TXNRD2 protein function. ClinVar contains an entry for this variant (Variation ID: 1395063). This variant has not been reported in the literature in individuals affected with TXNRD2-related conditions. This variant is present in population databases (rs772667712, gnomAD 0.006%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 364 of the TXNRD2 protein (p.Arg364Trp).

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