ClinVar Miner

Submissions for variant NM_003265.3(TLR3):c.1645G>A (p.Ala549Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003410699 SCV004114788 uncertain significance TLR3-related disorder 2023-04-11 criteria provided, single submitter clinical testing The TLR3 c.1645G>A variant is predicted to result in the amino acid substitution p.Ala549Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0023% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/4-187004485-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Labcorp Genetics (formerly Invitae), Labcorp RCV003498003 SCV004273047 uncertain significance Herpes simplex encephalitis, susceptibility to, 1 2023-06-09 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with TLR3-related conditions. This variant is present in population databases (rs764860383, gnomAD 0.002%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 549 of the TLR3 protein (p.Ala549Thr).

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