ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.1016A>T (p.Gln339Leu) (rs200606822)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521881 SCV000618207 uncertain significance not provided 2018-08-23 criteria provided, single submitter clinical testing The Q339L variant of uncertain significance in the TXNRD2 gene has not been published as pathogenic or been reported as benign to our knowledge. It has been observed in at least 4 unrelated individuals referred for cardiac genetic testing at GeneDx, however, some individuals harbor additional variants and no segregation data are available for these cases. This variant is observed in 86/24,012 (0.4%) alleles from individuals of African ancestry in large population cohorts (Lek et al., 2016). While Q339L 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, in-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function.Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or benign.
Ambry Genetics RCV000621919 SCV000736361 likely benign Cardiovascular phenotype 2018-09-18 criteria provided, single submitter clinical testing Other data supporting benign classification;Subpopulation frequency in support of benign classification
Invitae RCV001082162 SCV001003140 likely benign Primary dilated cardiomyopathy 2020-10-05 criteria provided, single submitter clinical testing

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