ClinVar Miner

Submissions for variant NM_003265.3(TLR3):c.671T>A (p.Phe224Tyr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004301117 SCV003957009 uncertain significance not specified 2023-03-21 criteria provided, single submitter clinical testing The c.671T>A (p.F224Y) alteration is located in exon 4 (coding exon 3) of the TLR3 gene. This alteration results from a T to A substitution at nucleotide position 671, causing the phenylalanine (F) at amino acid position 224 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003779920 SCV004680234 uncertain significance Herpes simplex encephalitis, susceptibility to, 1 2023-06-15 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals affected with TLR3-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces phenylalanine, which is neutral and non-polar, with tyrosine, which is neutral and polar, at codon 224 of the TLR3 protein (p.Phe224Tyr).

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