ClinVar Miner

Submissions for variant NM_001318789.2(TLR2):c.271A>G (p.Ile91Val)

gnomAD frequency: 0.00149  dbSNP: rs116232047
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000889528 SCV001033220 likely benign not provided 2018-05-31 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224487 SCV003920563 uncertain significance Leprosy, susceptibility to, 3; Mycobacterium tuberculosis, susceptibility to; Colorectal cancer 2022-10-05 criteria provided, single submitter clinical testing This variant has not been reported in the literature but is present in the Genome Aggregation Database (Highest reported MAF 0.4% (199/41436) including 1 homozygote (https://gnomad.broadinstitute.org/variant/4-153703178-A-G?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:716824). This variant amino acid Valine (Val) is present in several species including multiple mammals; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
PreventionGenetics, part of Exact Sciences RCV003910548 SCV004719545 benign TLR2-related disorder 2019-10-28 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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