ClinVar Miner

Submissions for variant NM_003265.3(TLR3):c.1015T>G (p.Ser339Ala)

gnomAD frequency: 0.00004  dbSNP: rs752833190
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001341120 SCV001534970 uncertain significance Herpes simplex encephalitis, susceptibility to, 1 2023-12-10 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 339 of the TLR3 protein (p.Ser339Ala). This variant is present in population databases (rs752833190, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with TLR3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1037895). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The alanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
PreventionGenetics, part of Exact Sciences RCV003399127 SCV004120194 uncertain significance TLR3-related disorder 2024-08-23 no assertion criteria provided clinical testing The TLR3 c.1015T>G variant is predicted to result in the amino acid substitution p.Ser339Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0040% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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