ClinVar Miner

Submissions for variant NM_003265.3(TLR3):c.957C>A (p.His319Gln)

gnomAD frequency: 0.00003  dbSNP: rs144596374
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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 RCV000647024 SCV000768811 likely benign Herpes simplex encephalitis, susceptibility to, 1 2024-12-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV004025720 SCV003713187 uncertain significance not specified 2022-11-21 criteria provided, single submitter clinical testing The c.957C>A (p.H319Q) alteration is located in exon 4 (coding exon 3) of the TLR3 gene. This alteration results from a C to A substitution at nucleotide position 957, causing the histidine (H) at amino acid position 319 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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