ClinVar Miner

Submissions for variant NM_001289125.3(IFNAR2):c.505G>A (p.Val169Ile)

gnomAD frequency: 0.00014  dbSNP: rs140533677
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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 RCV002213575 SCV002492606 benign not provided 2023-06-24 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV002201918 SCV002495796 uncertain significance Hepatitis B virus, susceptibility to; Immunodeficiency 45 2021-07-02 criteria provided, single submitter clinical testing IFNAR2 NM_207585.2 exon 6 p.Val169Ile (c.505G>A): This variant has not been reported in the literature but is present in 0.4% (23/5198) of East Asian alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/21-33248819-G-A?dataset=gnomad_r3). This variant amino acid Isoleucine (Ile) is present in several species including mammals 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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