ClinVar Miner

Submissions for variant NM_052872.4(IL17F):c.437T>G (p.Val146Gly)

dbSNP: rs1763973005
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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 RCV001338958 SCV001532663 uncertain significance Candidiasis, familial, 6 2020-08-25 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with IL17F-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with glycine at codon 146 of the IL17F protein (p.Val146Gly). The valine residue is weakly conserved and there is a moderate physicochemical difference between valine and glycine.

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