ClinVar Miner

Submissions for variant NM_003265.3(TLR3):c.180T>A (p.His60Gln)

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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 RCV003604211 SCV004413965 uncertain significance Herpes simplex encephalitis, susceptibility to, 1 2023-12-19 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 60 of the TLR3 protein (p.His60Gln). This variant is present in population databases (rs780502519, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with TLR3-related conditions. 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 RCV004371669 SCV004965338 uncertain significance not specified 2024-02-12 criteria provided, single submitter clinical testing The c.180T>A (p.H60Q) alteration is located in exon 2 (coding exon 1) of the TLR3 gene. This alteration results from a T to A substitution at nucleotide position 180, causing the histidine (H) at amino acid position 60 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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