ClinVar Miner

Submissions for variant NM_153460.4(IL17RC):c.1438dup (p.Ala480fs)

gnomAD frequency: 0.00004  dbSNP: rs762617740
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001298679 SCV001487742 uncertain significance Candidiasis, familial, 9 2020-10-09 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with IL17RC-related conditions. This variant is present in population databases (rs762617740, ExAC 0.02%). This sequence change results in a premature translational stop signal in the IL17RC gene (p.Ala551Glyfs*44). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 241 amino acids of the IL17RC protein.

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