ClinVar Miner

Submissions for variant NM_003265.3(TLR3):c.1873G>T (p.Val625Phe)

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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 RCV003338178 SCV004047167 uncertain significance Immunodeficiency 83, susceptibility to viral infections criteria provided, single submitter clinical testing The missense variant c.1873G>T( p.Val625Phe) in TLR3 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Val625Phe variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Val at position 625 is changed to a Phe changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Val625Phe in TLR3 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance .

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