ClinVar Miner

Submissions for variant NM_003265.3(TLR3):c.295C>G (p.Pro99Ala)

gnomAD frequency: 0.00001  dbSNP: rs754548817
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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 RCV001874031 SCV002119211 uncertain significance Herpes simplex encephalitis, susceptibility to, 1 2023-11-25 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 99 of the TLR3 protein (p.Pro99Ala). This variant is present in population databases (rs754548817, gnomAD 0.04%). 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: 1354115). 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 tolerated. 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.
Ambry Genetics RCV004038986 SCV003563295 uncertain significance not specified 2021-09-16 criteria provided, single submitter clinical testing The c.295C>G (p.P99A) alteration is located in exon 2 (coding exon 1) of the TLR3 gene. This alteration results from a C to G substitution at nucleotide position 295, causing the proline (P) at amino acid position 99 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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