ClinVar Miner

Submissions for variant NM_138636.5(TLR8):c.328C>G (p.Gln110Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004723669 SCV005329274 uncertain significance Immunodeficiency 98 with autoinflammation, X-linked 2023-05-20 criteria provided, single submitter clinical testing The observed missense c.328C>G(p.Gln110Glu) variant in TLR8 gene has not been reported previously as a pathogenic variant nor a benign variant, to our knowledge. The p.Gln110Glu variant is absent in gnomAD Exomes. This variant has not been submitted to the ClinVar database. Multiple lines of computational evidences (Polyphen - Benign, SIFT - Tolerated and MutationTaster - Polymorphism) predict no damaging effect on protein structure and function for this variant. The amino acid Gln at position 110 is changed to a Glu changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as a Variant of Uncertain Significance (VUS).

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