ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.656G>C (p.Gly219Ala) (rs199510610)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227863 SCV000289538 uncertain significance Primary dilated cardiomyopathy 2016-02-07 criteria provided, single submitter clinical testing This sequence change replaces glycine with alanine at codon 219 of the TXNRD2 protein (p.Gly219Ala). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and alanine. This variant is present in population databases (rs199510610, ExAC 0.06%) but has not been reported in the literature in individuals with a TXNRD2-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this is a rare missense change with uncertain impact on protein function. There is no indication that this variant causes disease, but the evidence is insufficient at this time to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000617790 SCV000735560 uncertain significance Cardiovascular phenotype 2019-09-20 criteria provided, single submitter clinical testing The p.G219A variant (also known as c.656G>C), located in coding exon 8 of the TXNRD2 gene, results from a G to C substitution at nucleotide position 656. The glycine at codon 219 is replaced by alanine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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