ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.10633G>A (p.Glu3545Lys)

gnomAD frequency: 0.00001  dbSNP: rs1379154957
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Total submissions: 1
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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 RCV000768112 SCV000899037 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 32 c.10627G>A (p.Glu3543Lys): This variant has not been reported in the literature and is absent from large control databases. This variant amino acid Lysine (Lys) is present in another species (star nosed-mole); this suggests that this variant may not impact the protein, though conservation is unclear. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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