ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.3814G>A (p.Val1272Met)

gnomAD frequency: 0.00006  dbSNP: rs749925578
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001733476 SCV001983900 uncertain significance not provided 2021-04-22 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Ambry Genetics RCV002361010 SCV002625493 uncertain significance Cardiovascular phenotype 2024-08-19 criteria provided, single submitter clinical testing The p.V1272M variant (also known as c.3814G>A), located in coding exon 9 of the TNXB gene, results from a G to A substitution at nucleotide position 3814. The valine at codon 1272 is replaced by methionine, 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.
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas RCV003333769 SCV004041645 uncertain significance Ehlers-Danlos syndrome due to tenascin-X deficiency 2023-10-09 no assertion criteria provided clinical testing

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