ClinVar Miner

Submissions for variant NM_000418.4(IL4R):c.1160C>T (p.Ser387Leu)

gnomAD frequency: 0.00374  dbSNP: rs6413500
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768238 SCV000898755 uncertain significance IgE responsiveness, atopic; Susceptibility to HIV infection 2021-03-30 criteria provided, single submitter clinical testing IL4R: NM_000418.3 exon 11 p.Ser387Leu (c.1160C>T): This variant has not been reported in the literature but is present in 0.5% (719/126660) of European alleles, including 3 homozygotes in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs6413500). This variant amino acid Leucine (Leu) is present in 6 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000951136 SCV001097504 benign not provided 2018-07-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003928266 SCV004742064 benign IL4R-related disorder 2019-05-10 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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