ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.7873C>A (p.Pro2625Thr)

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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 RCV004524443 SCV005027807 uncertain significance Cardiovascular phenotype 2023-10-19 criteria provided, single submitter clinical testing The p.P2625T variant (also known as c.7873C>A), located in coding exon 22 of the TNXB gene, results from a C to A substitution at nucleotide position 7873. The proline at codon 2625 is replaced by threonine, 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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