ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.5252G>A (p.Gly1751Asp)

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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 RCV002340961 SCV002643811 uncertain significance Cardiovascular phenotype 2024-10-19 criteria provided, single submitter clinical testing The p.G1751D variant (also known as c.5252G>A), located in coding exon 13 of the TNXB gene, results from a G to A substitution at nucleotide position 5252. The glycine at codon 1751 is replaced by aspartic acid, an amino acid with 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.
Mayo Clinic Laboratories, Mayo Clinic RCV004793777 SCV005412105 uncertain significance not provided 2024-09-09 criteria provided, single submitter clinical testing BP4
Fulgent Genetics, Fulgent Genetics RCV005032245 SCV005669515 uncertain significance Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8 2024-02-06 criteria provided, single submitter clinical testing

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