ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.715C>G (p.Arg239Gly)

dbSNP: rs369465986
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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 RCV000701389 SCV000830189 uncertain significance Gorlin syndrome; Medulloblastoma 2018-02-26 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 239 of the SUFU protein (p.Arg239Gly). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SUFU-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; 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.

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