ClinVar Miner

Submissions for variant NM_014339.7(IL17RA):c.995T>C (p.Leu332Pro)

gnomAD frequency: 0.00001  dbSNP: rs1414561554
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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 RCV001881371 SCV002154817 uncertain significance Immunodeficiency 51 2021-10-12 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 332 of the IL17RA protein (p.Leu332Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with IL17RA-related conditions. This variant is not present in population databases (ExAC no frequency).

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