Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000647017 | SCV000768803 | uncertain significance | Herpes simplex encephalitis, susceptibility to, 1 | 2024-05-24 | criteria provided, single submitter | clinical testing | This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 833 of the TLR3 protein (p.His833Tyr). This variant is not present in population databases (gnomAD no frequency). 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: 537921). 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 tyrosine 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. |
| Ambry Genetics | RCV004867687 | SCV005516251 | uncertain significance | not specified | 2024-11-11 | criteria provided, single submitter | clinical testing | The c.2497C>T (p.H833Y) alteration is located in exon 5 (coding exon 4) of the TLR3 gene. This alteration results from a C to T substitution at nucleotide position 2497, causing the histidine (H) at amino acid position 833 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |