Submissions for variant NM_001365276.2(TNXB):c.5625G>T (p.Pro1875=)

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002345045	SCV002654198	uncertain significance	Cardiovascular phenotype	2021-06-24	criteria provided, single submitter	clinical testing	The c.5625G>T variant (also known as p.P1875P), located in coding exon 15 of the TNXB gene, results from a G to T substitution at nucleotide position 5625. This nucleotide substitution does not change the proline at codon 1875. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx	RCV003108039	SCV003761833	uncertain significance	not provided	2022-07-25	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
PreventionGenetics, part of Exact Sciences	RCV003933757	SCV004751285	likely benign	TNXB-related disorder	2019-05-30	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).