ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.3881A>G (p.Gln1294Arg)

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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 RCV002366315 SCV002623837 uncertain significance Cardiovascular phenotype 2020-01-24 criteria provided, single submitter clinical testing The p.Q1294R variant (also known as c.3881A>G), located in coding exon 9 of the TNXB gene, results from an A to G substitution at nucleotide position 3881. The glutamine at codon 1294 is replaced by arginine, an amino acid with highly 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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