ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.535G>A (p.Gly179Arg)

gnomAD frequency: 0.00004  dbSNP: rs772400701
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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 RCV001220578 SCV001392576 uncertain significance Imerslund-Grasbeck syndrome 2019-04-26 criteria provided, single submitter clinical testing This variant is present in population databases (rs772400701, ExAC 0.03%). This sequence change replaces glycine with arginine at codon 179 of the CUBN protein (p.Gly179Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant has not been reported in the literature in individuals with CUBN-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 C15"). 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.
Fulgent Genetics, Fulgent Genetics RCV002484199 SCV002793366 uncertain significance Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2021-12-14 criteria provided, single submitter clinical testing

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