ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.8290T>C (p.Cys2764Arg)

gnomAD frequency: 0.00040  dbSNP: rs146256983
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002467311 SCV002762542 uncertain significance not provided 2022-06-06 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002573593 SCV003002914 uncertain significance Imerslund-Grasbeck syndrome 2022-08-19 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 2764 of the CUBN protein (p.Cys2764Arg). This variant is present in population databases (rs146256983, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with CUBN-related conditions. 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 RCV005042848 SCV005671207 uncertain significance Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2024-01-09 criteria provided, single submitter clinical testing

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