ClinVar Miner

Submissions for variant NM_021155.4(CD209):c.642G>C (p.Glu214Asp)

gnomAD frequency: 0.01020  dbSNP: rs11465377
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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 RCV003224396 SCV003919777 uncertain significance Susceptibility to HIV infection; Mycobacterium tuberculosis, susceptibility to; Dengue virus, susceptibility to 2021-03-30 criteria provided, single submitter clinical testing CD209 NM_021155.3 exon 4 p.Glu214Asp (c.642G>C):This variant has not been reported in the literature but is present in 0.5% (59/11200) of African alleles, including 1 homozygote in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs11465377). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Breakthrough Genomics, Breakthrough Genomics RCV004692222 SCV005192539 uncertain significance not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003918251 SCV004736633 benign CD209-related disorder 2019-10-31 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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