ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.64G>A (p.Val22Met) (rs370819229)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000424277 SCV000534763 likely benign not specified 2018-02-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000476457 SCV000546083 uncertain significance Primary dilated cardiomyopathy 2019-10-11 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 22 of the TXNRD2 protein (p.Val22Met). The valine residue is weakly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs370819229, ExAC 0.4%). This variant has not been reported in the literature in individuals with TXNRD2-related disease. ClinVar contains an entry for this variant (Variation ID: 391644). 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.
Ambry Genetics RCV000619691 SCV000735086 likely benign Cardiovascular phenotype 2019-03-05 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529651 SCV001743458 likely benign not provided no assertion criteria provided clinical testing

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