ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.8285A>C (p.His2762Pro)

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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 RCV002430255 SCV002677239 uncertain significance Cardiovascular phenotype 2022-03-21 criteria provided, single submitter clinical testing The p.H2762P variant (also known as c.8285A>C), located in coding exon 23 of the TNXB gene, results from an A to C substitution at nucleotide position 8285. The histidine at codon 2762 is replaced by proline, 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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