Submissions for variant NM_001365276.2(TNXB):c.5488A>C (p.Ser1830Arg)

gnomAD frequency: 0.00088  dbSNP: rs200519530

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001576187	SCV001803321	likely benign	not provided	2021-03-17	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge
CeGaT Center for Human Genetics Tuebingen	RCV001576187	SCV002062664	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	TNXB: BP4
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002276671	SCV002566280	uncertain significance	Ehlers-Danlos syndrome	2022-03-15	criteria provided, single submitter	clinical testing
MGZ Medical Genetics Center	RCV002290670	SCV002579867	uncertain significance	Ehlers-Danlos syndrome due to tenascin-X deficiency	2021-12-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002348856	SCV002651237	likely benign	Cardiovascular phenotype	2024-10-03	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.
Mayo Clinic Laboratories, Mayo Clinic	RCV001576187	SCV005412104	uncertain significance	not provided	2024-07-29	criteria provided, single submitter	clinical testing	BP4
PreventionGenetics, part of Exact Sciences	RCV003945953	SCV004766216	likely benign	TNXB-related disorder	2023-04-05	no assertion criteria provided	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).