ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.905G>A (p.Gly302Asp)

gnomAD frequency: 0.00001  dbSNP: rs757519340
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001755607 SCV002005180 uncertain significance not provided 2018-12-17 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002540700 SCV003004761 uncertain significance Primary dilated cardiomyopathy 2023-01-24 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 not expected to disrupt TXNRD2 protein function. ClinVar contains an entry for this variant (Variation ID: 1318959). This variant has not been reported in the literature in individuals affected with TXNRD2-related conditions. This variant is present in population databases (rs757519340, gnomAD 0.01%). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 302 of the TXNRD2 protein (p.Gly302Asp).

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