Submissions for variant NM_001365276.2(TNXB):c.2170C>T (p.Arg724Cys)

gnomAD frequency: 0.00114  dbSNP: rs138771398

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences	RCV000785001	SCV000923551	uncertain significance	Ehlers-Danlos syndrome due to tenascin-X deficiency	2019-01-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001662817	SCV001874227	uncertain significance	not provided	2023-05-01	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002279528	SCV002566224	likely benign	Ehlers-Danlos syndrome	2021-04-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002424780	SCV002730538	likely benign	Cardiovascular phenotype	2024-03-12	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics	RCV002493432	SCV002803892	uncertain significance	Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8	2022-05-02	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001662817	SCV002821365	likely benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	TNXB: BP4
PreventionGenetics, part of Exact Sciences	RCV003928271	SCV004746015	likely benign	TNXB-related disorder	2022-12-22	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Breakthrough Genomics, Breakthrough Genomics	RCV001662817	SCV005188883	uncertain significance	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001662817	SCV001977737	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001662817	SCV001978399	likely benign	not provided		no assertion criteria provided	clinical testing