ClinVar Miner

Submissions for variant NM_173842.3(IL1RN):c.496G>A (p.Val166Ile)

gnomAD frequency: 0.00010  dbSNP: rs143208167
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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 RCV001214883 SCV001386589 uncertain significance Sterile multifocal osteomyelitis with periostitis and pustulosis 2022-09-19 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 169 of the IL1RN protein (p.Val169Ile). This variant is present in population databases (rs143208167, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with IL1RN-related conditions. ClinVar contains an entry for this variant (Variation ID: 944477). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine 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.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224528 SCV003920063 uncertain significance Microvascular complications of diabetes, susceptibility to, 4; Sterile multifocal osteomyelitis with periostitis and pustulosis; Gastric cancer 2021-03-30 criteria provided, single submitter clinical testing IL1RN NM_173841.2 exon 6 p.Val169Ile (c.505G>A): This variant has not been reported in the literature but is present in 0.02% (5/24970) of African alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/2-113890410-G-A). This variant amino acid Isoleucine (Ile) is present in 9 species and is not well conserved among evolutionarily distant species; 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.

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