ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.1739A>G (p.Tyr580Cys)

gnomAD frequency: 0.00001  dbSNP: rs761561411
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centogene AG - the Rare Disease Company RCV001808943 SCV002059216 uncertain significance Ehlers-Danlos syndrome due to tenascin-X deficiency 2021-02-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002397760 SCV002710229 uncertain significance Cardiovascular phenotype 2024-12-09 criteria provided, single submitter clinical testing The p.Y580C variant (also known as c.1739A>G), located in coding exon 2 of the TNXB gene, results from an A to G substitution at nucleotide position 1739. The tyrosine at codon 580 is replaced by cysteine, an amino acid with highly dissimilar 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.
Revvity Omics, Revvity RCV003136167 SCV003827783 uncertain significance Vesicoureteral reflux 8 2019-08-16 criteria provided, single submitter clinical testing
GeneDx RCV004779142 SCV005388177 uncertain significance not provided 2024-03-27 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function

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