ClinVar Miner

Submissions for variant NM_000201.3(ICAM1):c.1432C>T (p.Arg478Trp) (rs5030400)

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Total submissions: 1
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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 RCV001027828 SCV001190448 uncertain significance Susceptibility to malaria 2019-04-17 criteria provided, single submitter clinical testing ICAM1 NM_000201.2 exon 7 p.Arg478Trp (c.1432C>T): This variant has not been reported in the literature in humans, but is present in 0.5% (148/25102) of Finnish alleles, including 1 homozygote in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/19-10395796-C-T). Evolutionary conservation suggests that this variant may not impact the protein; computational predictive tools for this variant are unclear. In vitro functional studies suggest that this variant will not impact the protein (Vischer 2006 PMID:188205950). However, these studies may not accurately represent in vivo biological function. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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