I think this TNXB mutation could be an unknown cause of ehlers-danlos syndrome
I got some dna results for full exome testing looking for suspected connective tissue disorder. Several TNXB variants are known to cause classic-like Ehlers-danlos syndrome (EDS) type 1, but there is one nonsense mutation Clinvar says is germline pathogenic but there is no condition (currently) linked to it. It was previously listed for EDS (rs2151907055) but is now withdrawn from dbSNP (no idea why). There is no existing research (that I could find) that have looked at this variant. Specifically:
NM_001365276.2(TNXB):c.7440delinsAC (p. Tyr2480Ter)
Accession: VCV0001701499.30
RCV002276146
This mutation would result in the absence or severe deficiency of the tenascin-x protein. Since this is characteristic of EDS, I think that it would qualify as being a diagnostic tool.
What do y’all think?
Edit: fixed rsID