ClinVar Miner

Submissions for variant NM_003265.3(TLR3):c.2623T>A (p.Cys875Ser)

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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 RCV004239803 SCV003748136 uncertain significance not specified 2022-07-11 criteria provided, single submitter clinical testing The c.2623T>A (p.C875S) alteration is located in exon 5 (coding exon 4) of the TLR3 gene. This alteration results from a T to A substitution at nucleotide position 2623, causing the cysteine (C) at amino acid position 875 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003603147 SCV004508600 uncertain significance Herpes simplex encephalitis, susceptibility to, 1 2023-06-04 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. 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. ClinVar contains an entry for this variant (Variation ID: 2406619). This variant has not been reported in the literature in individuals affected with TLR3-related conditions. This variant is present in population databases (rs146846379, gnomAD 0.002%). This sequence change replaces cysteine, which is neutral and slightly polar, with serine, which is neutral and polar, at codon 875 of the TLR3 protein (p.Cys875Ser).

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