ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.3496G>A (p.Gly1166Arg)

gnomAD frequency: 0.00004  dbSNP: rs201443885
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001874780 SCV002144416 uncertain significance Imerslund-Grasbeck syndrome 2022-08-10 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1166 of the CUBN protein (p.Gly1166Arg). This variant is present in population databases (rs201443885, gnomAD 0.006%). 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: 1372722). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Athena Diagnostics RCV002506933 SCV002817268 uncertain significance not provided 2020-01-08 criteria provided, single submitter clinical testing This observation is not an independent occurrence and has been identified in the same individual by RCIGM, the other laboratory participating in the GEMINI study.
Ambry Genetics RCV002551673 SCV003744348 uncertain significance Inborn genetic diseases 2022-12-19 criteria provided, single submitter clinical testing The c.3496G>A (p.G1166R) alteration is located in exon 25 (coding exon 25) of the CUBN gene. This alteration results from a G to A substitution at nucleotide position 3496, causing the glycine (G) at amino acid position 1166 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005040455 SCV005669076 uncertain significance Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2024-01-24 criteria provided, single submitter clinical testing

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