ClinVar Miner

Submissions for variant NM_153460.4(IL17RC):c.1717G>A (p.Glu573Lys)

dbSNP: rs764647705
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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 RCV002204530 SCV002495803 uncertain significance Candidiasis, familial, 9 2021-05-21 criteria provided, single submitter clinical testing IL17RC NM_153461.3 exon 19 p.Glu644Lys (c.1930G>A): This variant has not been reported in the literature but is present in 0.02% (1/4838) of South Asian alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/3-9933147-G-A?dataset=gnomad_r3). Evolutionary conservation suggests that this variant may not impact the protein; computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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