ClinVar Miner

Submissions for variant NM_197947.3(CLEC7A):c.414A>G (p.Leu138=)

gnomAD frequency: 0.00025  dbSNP: rs143893294
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Total submissions: 2
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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 RCV000768185 SCV000898616 uncertain significance Familial chronic mucocutaneous candidiasis 2017-11-02 criteria provided, single submitter clinical testing CLEC7A NM_197947.2 exon 4 p.Leu138= (c.414A>G): This variant has not been reported in the literature but is present in 15/24020 African alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs143893294). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224435 SCV003919807 uncertain significance Familial chronic mucocutaneous candidiasis; Aspergillosis, susceptibility to criteria provided, single submitter clinical testing CLEC7A NM_197947 exon 4 p.Leu138Leu (c.414A>G): This variant has not been reported in the literature but is present in 15/24020 African alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs143893294). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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