ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.3886A>G (p.Lys1296Glu)

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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 RCV002366327 SCV002624285 uncertain significance Cardiovascular phenotype 2024-12-05 criteria provided, single submitter clinical testing The p.K1296E variant (also known as c.3886A>G), located in coding exon 9 of the TNXB gene, results from an A to G substitution at nucleotide position 3886. The lysine at codon 1296 is replaced by glutamic acid, 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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