ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.10409C>T (p.Thr3470Met)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003176270 SCV003856421 uncertain significance Cardiovascular phenotype 2023-03-18 criteria provided, single submitter clinical testing The p.T3468M variant (also known as c.10403C>T), located in coding exon 30 of the TNXB gene, results from a C to T substitution at nucleotide position 10403. The threonine at codon 3468 is replaced by methionine, an amino acid with similar properties. This amino acid position is not 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.
GeneDx RCV004725669 SCV005335076 uncertain significance not provided 2023-05-16 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 has a deleterious effect on protein structure/function
Fulgent Genetics, Fulgent Genetics RCV005036684 SCV005669483 uncertain significance Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8 2024-05-14 criteria provided, single submitter clinical testing

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