ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.5762G>A (p.Arg1921His)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003145916 SCV003828744 uncertain significance not provided 2021-11-28 criteria provided, single submitter clinical testing
GeneDx RCV003145916 SCV005392409 uncertain significance not provided 2024-05-03 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Reported in an individual with hereditary diffuse gastric cancer in published literature (PMID: 36484990); This variant is associated with the following publications: (PMID: 36484990)
Fulgent Genetics, Fulgent Genetics RCV005036677 SCV005665827 uncertain significance Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2024-01-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005099396 SCV005810764 uncertain significance Imerslund-Grasbeck syndrome 2025-01-29 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1921 of the CUBN protein (p.Arg1921His). This variant is present in population databases (rs192022688, gnomAD 0.07%). 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: 2440615). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt CUBN protein function with a negative predictive value of 80%. 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.

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