ClinVar Miner

Submissions for variant NM_003265.3(TLR3):c.1571A>T (p.Asp524Val)

gnomAD frequency: 0.00004  dbSNP: rs373400665
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001889642 SCV002162111 uncertain significance Herpes simplex encephalitis, susceptibility to, 1 2023-04-07 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. ClinVar contains an entry for this variant (Variation ID: 1390839). This variant has not been reported in the literature in individuals affected with TLR3-related conditions. This variant is present in population databases (rs373400665, gnomAD 0.002%). This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 524 of the TLR3 protein (p.Asp524Val).

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