ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.1407C>T (p.Asn469=)

dbSNP: rs200063300
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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 RCV001459422 SCV001663261 likely benign Primary dilated cardiomyopathy 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002396080 SCV002698918 uncertain significance Cardiovascular phenotype 2022-10-01 criteria provided, single submitter clinical testing The c.1407C>T variant (also known as p.N469N), located in coding exon 16 of the TXNRD2 gene, results from a C to T substitution at nucleotide position 1407. This nucleotide substitution does not change the asparagine at codon 469. This nucleotide position is poorly 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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