ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.3908del (p.Gln1303fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003486525 SCV004241396 pathogenic Ehlers-Danlos syndrome due to tenascin-X deficiency 2023-12-13 criteria provided, single submitter clinical testing Variant summary: TNXB c.3908delA (p.Gln1303ArgfsX25) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 4.2e-06 in 238106 control chromosomes. To our knowledge, no occurrence of c.3908delA in individuals affected with Ehlers-Danlos-like syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.

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