ClinVar Miner

Submissions for variant NM_014339.7(IL17RA):c.26C>T (p.Ser9Phe)

gnomAD frequency: 0.00003  dbSNP: rs752407403
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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 RCV000796551 SCV000936070 uncertain significance Immunodeficiency 51 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 9 of the IL17RA protein (p.Ser9Phe). The serine residue is weakly conserved and there is a large physicochemical difference between serine and phenylalanine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with IL17RA-related conditions. 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.

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