ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.1322G>A (p.Arg441Gln) (rs759374389)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208108 SCV000264312 uncertain significance Primary dilated cardiomyopathy 2015-05-05 criteria provided, single submitter clinical testing
GeneDx RCV000430100 SCV000535173 uncertain significance not provided 2017-12-20 criteria provided, single submitter clinical testing The R441Q variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R441Q variant is observed in 1/17248 (0.006%) alleles from individuals of East Asian background and 6/246246 (0.002%) total alleles in large population cohorts (Lek et al., 2016). The R441Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret R441Q as a variant of uncertain significance.

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