ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.8631G>C (p.Gln2877His)

gnomAD frequency: 0.00002  dbSNP: rs773612193
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001548644 SCV001768590 uncertain significance not provided 2019-09-24 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Ambry Genetics RCV002377911 SCV002687729 uncertain significance Cardiovascular phenotype 2023-09-18 criteria provided, single submitter clinical testing The p.Q2875H variant (also known as c.8625G>C), located in coding exon 24 of the TNXB gene, results from a G to C substitution at nucleotide position 8625. The glutamine at codon 2875 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly 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 RCV002501886 SCV002777196 uncertain significance Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8 2021-08-07 criteria provided, single submitter clinical testing

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