ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.6613G>A (p.Gly2205Arg)

gnomAD frequency: 0.00008  dbSNP: rs140883483
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506166 SCV000603266 uncertain significance not specified 2016-08-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001066513 SCV001231526 uncertain significance Imerslund-Grasbeck syndrome 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 2205 of the CUBN protein (p.Gly2205Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs140883483, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with CUBN-related conditions. ClinVar contains an entry for this variant (Variation ID: 439577). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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 RCV002496965 SCV002779918 uncertain significance Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2022-02-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV003258838 SCV003950088 uncertain significance Inborn genetic diseases 2023-05-23 criteria provided, single submitter clinical testing The c.6613G>A (p.G2205R) alteration is located in exon 43 (coding exon 43) of the CUBN gene. This alteration results from a G to A substitution at nucleotide position 6613, causing the glycine (G) at amino acid position 2205 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003884587 SCV004700830 uncertain significance not provided 2023-12-01 criteria provided, single submitter clinical testing CUBN: PM2

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