ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.1407C>A (p.Asn469Lys) (rs200063300)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523380 SCV000619991 uncertain significance not specified 2017-08-11 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the TXNRD2 gene. The N469K variant has not been published as pathogenic or been reported as benign to our knowledge. The N469K variant variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Nevertheless, the Exome Aggregation Consortium reports N469K was observed in 21/65,462 (0.03%) alleles from individuals of European (Non-Finnish) background (Lek et al., 2016).
Invitae RCV000544015 SCV000623487 likely benign Primary dilated cardiomyopathy 2020-11-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617630 SCV000735686 likely benign Cardiovascular phenotype 2019-06-07 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification

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