ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.4934A>G (p.Gln1645Arg)

dbSNP: rs1243565121
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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 RCV001914719 SCV002145634 uncertain significance Imerslund-Grasbeck syndrome 2022-07-12 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1378907). This variant has not been reported in the literature in individuals affected with CUBN-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 1645 of the CUBN protein (p.Gln1645Arg).
Fulgent Genetics, Fulgent Genetics RCV002482619 SCV002799687 uncertain significance Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2022-04-01 criteria provided, single submitter clinical testing

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