ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.1331C>G (p.Ser444Cys)

gnomAD frequency: 0.00001  dbSNP: rs749643976
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208326 SCV000264313 uncertain significance not specified 2015-11-19 criteria provided, single submitter clinical testing
Invitae RCV001853318 SCV002133587 uncertain significance Primary dilated cardiomyopathy 2022-10-17 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on TXNRD2 protein function. ClinVar contains an entry for this variant (Variation ID: 222886). This variant has not been reported in the literature in individuals affected with TXNRD2-related conditions. This variant is present in population databases (rs749643976, gnomAD 0.02%). This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 444 of the TXNRD2 protein (p.Ser444Cys).
Ambry Genetics RCV002381719 SCV002693066 uncertain significance Cardiovascular phenotype 2021-10-07 criteria provided, single submitter clinical testing The p.S444C variant (also known as c.1331C>G), located in coding exon 15 of the TXNRD2 gene, results from a C to G substitution at nucleotide position 1331. The serine at codon 444 is replaced by cysteine, an amino acid with dissimilar 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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