ClinVar Miner

Submissions for variant NM_003265.3(TLR3):c.1546A>G (p.Asn516Asp)

gnomAD frequency: 0.00006  dbSNP: rs778686045
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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 RCV001361893 SCV001557884 uncertain significance Herpes simplex encephalitis, susceptibility to, 1 2023-12-18 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 516 of the TLR3 protein (p.Asn516Asp). This variant is present in population databases (rs778686045, gnomAD 0.02%). 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: 1053533). 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. 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 RCV004036816 SCV004965336 uncertain significance not specified 2023-12-14 criteria provided, single submitter clinical testing The c.1546A>G (p.N516D) alteration is located in exon 4 (coding exon 3) of the TLR3 gene. This alteration results from a A to G substitution at nucleotide position 1546, causing the asparagine (N) at amino acid position 516 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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