ClinVar Miner

Submissions for variant NM_014339.7(IL17RA):c.1304A>G (p.Glu435Gly)

gnomAD frequency: 0.00001  dbSNP: rs1304084287
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002033304 SCV002112304 uncertain significance Immunodeficiency 51 2022-01-15 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 435 of the IL17RA protein (p.Glu435Gly). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with IL17RA-related conditions. 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"). 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.
Ambry Genetics RCV004038796 SCV003606873 uncertain significance not specified 2022-04-13 criteria provided, single submitter clinical testing The c.1304A>G (p.E435G) alteration is located in exon 13 (coding exon 13) of the IL17RA gene. This alteration results from a A to G substitution at nucleotide position 1304, causing the glutamic acid (E) at amino acid position 435 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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