ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.9782T>C (p.Val3261Ala)

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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 RCV003182216 SCV003861918 uncertain significance Cardiovascular phenotype 2023-03-07 criteria provided, single submitter clinical testing The p.V3259A variant (also known as c.9776T>C), located in coding exon 28 of the TNXB gene, results from a T to C substitution at nucleotide position 9776. The valine at codon 3259 is replaced by alanine, an amino acid with 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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