ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.5416T>C (p.Phe1806Leu)

gnomAD frequency: 0.00016  dbSNP: rs184813324
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768114 SCV000899039 uncertain significance Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8 2021-03-30 criteria provided, single submitter clinical testing TNXB NM_019105.6 exon 15 p.Phe1806Leu (c.5416T>C): This variant has not been reported in the literature but is present in 50/126170 European alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs184813324). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
GeneDx RCV001585692 SCV001820698 uncertain significance not provided 2023-04-24 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

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