ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.917C>T (p.Thr306Met) (rs371153395)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000243706 SCV000320080 likely benign Cardiovascular phenotype 2019-08-08 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other data supporting benign classification
Invitae RCV001322670 SCV001513551 uncertain significance Primary dilated cardiomyopathy 2020-06-29 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 306 of the TXNRD2 protein (p.Thr306Met). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs371153395, ExAC 0.02%). This variant has not been reported in the literature in individuals with TXNRD2-related conditions. ClinVar contains an entry for this variant (Variation ID: 264270). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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