ClinVar Miner

Submissions for variant NM_014339.7(IL17RA):c.1972G>T (p.Gly658Cys)

gnomAD frequency: 0.00001  dbSNP: rs1218310098
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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 RCV001998104 SCV002257428 uncertain significance Immunodeficiency 51 2021-06-16 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. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with IL17RA-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change replaces glycine with cysteine at codon 658 of the IL17RA protein (p.Gly658Cys). The glycine residue is moderately conserved and there is a large physicochemical difference between glycine and cysteine.

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