ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.9673G>A (p.Glu3225Lys)

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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 RCV004996522 SCV005526758 uncertain significance Cardiovascular phenotype 2024-09-20 criteria provided, single submitter clinical testing The p.E3223K variant (also known as c.9667G>A), located in coding exon 27 of the TNXB gene, results from a G to A substitution at nucleotide position 9667. The glutamic acid at codon 3223 is replaced by lysine, 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 variant remains unclear.

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