Submissions for variant NM_001365276.2(TNXB):c.197G>C (p.Gly66Ala)

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002423658	SCV002718310	uncertain significance	Cardiovascular phenotype	2024-07-30	criteria provided, single submitter	clinical testing	The p.G66A variant (also known as c.197G>C), located in coding exon 1 of the TNXB gene, results from a G to C substitution at nucleotide position 197. The glycine at codon 66 is replaced by alanine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx	RCV003324856	SCV004030648	uncertain significance	not provided	2023-08-15	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
3billion, Medical Genetics	RCV004720365	SCV005328631	likely benign	Ehlers-Danlos syndrome due to tenascin-X deficiency	2024-09-20	criteria provided, single submitter	clinical testing	The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant.