Submissions for variant NM_001365276.2(TNXB):c.2945C>T (p.Thr982Ile)

gnomAD frequency: 0.00146  dbSNP: rs199569974

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001586735	SCV001820583	uncertain significance	not provided	2023-04-26	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
Ambry Genetics	RCV002440825	SCV002747900	uncertain significance	Cardiovascular phenotype	2023-04-26	criteria provided, single submitter	clinical testing	The p.T982I variant (also known as c.2945C>T), located in coding exon 6 of the TNXB gene, results from a C to T substitution at nucleotide position 2945. The threonine at codon 982 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is well 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.
PreventionGenetics, part of Exact Sciences	RCV003941034	SCV004762792	likely benign	TNXB-related disorder	2019-10-04	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).