ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.6833G>T (p.Gly2278Val)

dbSNP: rs1016095149
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001786891 SCV002028875 uncertain significance not provided 2021-05-26 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 (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Ambry Genetics RCV002361053 SCV002666638 uncertain significance Cardiovascular phenotype 2022-02-09 criteria provided, single submitter clinical testing The p.G2278V variant (also known as c.6833G>T), located in coding exon 18 of the TNXB gene, results from a G to T substitution at nucleotide position 6833. The glycine at codon 2278 is replaced by valine, an amino acid with dissimilar properties. 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.
Fulgent Genetics, Fulgent Genetics RCV002478019 SCV002777823 uncertain significance Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8 2022-04-01 criteria provided, single submitter clinical testing

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