ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.2083C>T (p.Arg695Trp)

gnomAD frequency: 0.00043  dbSNP: rs369143302
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001551959 SCV001772567 uncertain significance not provided 2024-05-06 criteria provided, single submitter clinical testing Identified in patients with hypermobile-EDS (hEDS) and clinically diagnosed limb girdle muscular dystrophy (LGMD); both patients harbored additional cardiogenetic variants (PMID: 29970176, 35000503); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29970176, 35000503)
Fulgent Genetics, Fulgent Genetics RCV002476855 SCV002782202 uncertain significance Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8 2021-12-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV004039298 SCV003541006 uncertain significance Cardiovascular phenotype 2023-10-25 criteria provided, single submitter clinical testing The p.R695W variant (also known as c.2083C>T), located in coding exon 2 of the TNXB gene, results from a C to T substitution at nucleotide position 2083. The arginine at codon 695 is replaced by tryptophan, an amino acid with dissimilar properties. This variant was detected in the heterozygous state and co-occurred with variants in other genes in an individual from a limb girdle muscular dystrophy cohort and an individual with hypermobile Ehlers-Danlos syndrome (Rashed ER et al. Vasc Med, 2022 Jun;27:283-289; Fichna JP et al. Hum Genomics, 2018 Jul;12:34). 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.
Mayo Clinic Laboratories, Mayo Clinic RCV001551959 SCV005412113 uncertain significance not provided 2024-06-19 criteria provided, single submitter clinical testing BP4

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