ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.6947C>T (p.Pro2316Leu)

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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 RCV004682441 SCV005178099 uncertain significance Cardiovascular phenotype 2024-03-24 criteria provided, single submitter clinical testing The p.P2316L variant (also known as c.6947C>T), located in coding exon 19 of the TNXB gene, results from a C to T substitution at nucleotide position 6947. The proline at codon 2316 is replaced by leucine, 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. Based on the available evidence, the clinical significance of this alteration remains unclear.

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