ClinVar Miner

Submissions for variant NM_014339.7(IL17RA):c.960G>T (p.Trp320Cys)

gnomAD frequency: 0.00002  dbSNP: rs758399114
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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 RCV001041054 SCV001204648 uncertain significance Immunodeficiency 51 2019-11-01 criteria provided, single submitter clinical testing This variant is present in population databases (rs758399114, ExAC 0.005%). 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 with IL17RA-related conditions. This sequence change replaces tryptophan with cysteine at codon 320 of the IL17RA protein (p.Trp320Cys). The tryptophan residue is highly conserved and there is a large physicochemical difference between tryptophan and cysteine.

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