Submissions for variant NM_001365276.2(TNXB):c.3761C>G (p.Pro1254Arg)

dbSNP: rs762130701

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001587089	SCV001819889	uncertain significance	not provided	2022-11-11	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 (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002276828	SCV002566251	uncertain significance	Ehlers-Danlos syndrome	2019-12-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002343767	SCV002619717	uncertain significance	Cardiovascular phenotype	2023-12-09	criteria provided, single submitter	clinical testing	The c.3761C>G (p.P1254R) alteration is located in exon 10 (coding exon 9) of the TNXB gene. This alteration results from a C to G substitution at nucleotide position 3761, causing the proline (P) at amino acid position 1254 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics	RCV002488429	SCV002783001	uncertain significance	Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8	2021-11-01	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV001587089	SCV004227221	uncertain significance	not provided	2023-02-15	criteria provided, single submitter	clinical testing	BP4