ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.9005A>G (p.Glu3002Gly)

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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 RCV002376301 SCV002683720 uncertain significance Cardiovascular phenotype 2024-10-07 criteria provided, single submitter clinical testing The p.E3000G variant (also known as c.8999A>G), located in coding exon 25 of the TNXB gene, results from an A to G substitution at nucleotide position 8999. The glutamic acid at codon 3000 is replaced by glycine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. 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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