ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.156G>A (p.Leu52=)

gnomAD frequency: 0.00001  dbSNP: rs939642675
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002182042 SCV002338838 likely benign Primary dilated cardiomyopathy 2023-08-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002398151 SCV002709995 uncertain significance Cardiovascular phenotype 2021-05-17 criteria provided, single submitter clinical testing The c.156G>A variant (also known as p.L52L), located in coding exon 2 of the TXNRD2 gene, results from a G to A substitution at nucleotide position 156. This nucleotide substitution does not change the at codon 52. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis 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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