ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.3847G>C (p.Val1283Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002364097 SCV002625851 uncertain significance Cardiovascular phenotype 2021-12-24 criteria provided, single submitter clinical testing The p.V1283L variant (also known as c.3847G>C), located in coding exon 9 of the TNXB gene, results from a G to C substitution at nucleotide position 3847. The valine at codon 1283 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is conserved. 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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