ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.1341T>G (p.Tyr447Ter) (rs202059967)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000252205 SCV000320076 uncertain significance Cardiovascular phenotype 2015-09-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense),Insufficient or conflicting evidence
OMIM RCV000539064 SCV000660440 pathogenic GLUCOCORTICOID DEFICIENCY 5 2017-12-22 no assertion criteria provided literature only
SIB Swiss Institute of Bioinformatics RCV000539064 SCV000883210 likely pathogenic GLUCOCORTICOID DEFICIENCY 5 2018-10-15 criteria provided, single submitter curation This variant is interpreted as Likely Pathogenic, for Glucocorticoid deficiency 5, autosomal recessive. The following ACMG Tag(s) were applied: PP1 => Cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease (https://www.ncbi.nlm.nih.gov/pubmed/24601690). PVS1-Moderate => Stop-gain mutation predicted to be loss of function. TXNRD2 is a selenoprotein and the selenocysteine residue is essential for enzymatic activity. The mutation is predicted to cause protein truncation prior the selenocysteine residue (http://www.uniprot.org/uniprot/Q9NNW7). PS3 => Well-established functional studies show a deleterious effect (https://www.ncbi.nlm.nih.gov/pubmed/24601690).

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