ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.4621C>T (p.Arg1541Trp)

gnomAD frequency: 0.00004  dbSNP: rs146824506
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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 RCV001201796 SCV001372887 uncertain significance Imerslund-Grasbeck syndrome 2019-08-23 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 1541 of the CUBN protein (p.Arg1541Trp). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs146824506, ExAC 0.01%). 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 RCV002480657 SCV002793981 uncertain significance Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2022-05-26 criteria provided, single submitter clinical testing

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