ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.10045G>A (p.Ala3349Thr)

dbSNP: rs529527925
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000416585 SCV000265660 uncertain significance Vesicoureteral reflux 8 criteria provided, single submitter research
GeneDx RCV001753631 SCV001987279 uncertain significance not provided 2023-09-20 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 RCV003298276 SCV003995437 uncertain significance Cardiovascular phenotype 2023-05-22 criteria provided, single submitter clinical testing The c.10039G>A variant (also known as p.A3347T), located in coding exon 28 of the TNXB gene, results from a G to A substitution at nucleotide position 10039. The amino acid change results in alanine to threonine at codon 3347, an amino acid with similar properties. However, this change occurs in the last base pair of coding exon 28, which makes it likely to have some effect on normal mRNA splicing. This nucleotide position is poorly conserved in available vertebrate species. This amino acid position is poorly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. In addition, as a missense substitution this 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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