ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.6469C>T (p.Arg2157Cys)

gnomAD frequency: 0.00005  dbSNP: rs369153948
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000762396 SCV000892709 uncertain significance not provided 2018-08-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002360873 SCV002660993 uncertain significance Cardiovascular phenotype 2021-12-29 criteria provided, single submitter clinical testing The p.R2157C variant (also known as c.6469C>T), located in coding exon 17 of the TNXB gene, results from a C to T substitution at nucleotide position 6469. The arginine at codon 2157 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.
Fulgent Genetics, Fulgent Genetics RCV005036091 SCV005669507 uncertain significance Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8 2024-01-30 criteria provided, single submitter clinical testing

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