ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.10105A>G (p.Ser3369Gly)

gnomAD frequency: 0.00070  dbSNP: rs145023719
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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 RCV001323800 SCV001514730 uncertain significance Imerslund-Grasbeck syndrome 2023-09-13 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 3369 of the CUBN protein (p.Ser3369Gly). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CUBN protein function. ClinVar contains an entry for this variant (Variation ID: 1023714). This variant has not been reported in the literature in individuals affected with CUBN-related conditions. This variant is present in population databases (rs145023719, gnomAD 0.2%).
GeneDx RCV002251586 SCV002522028 uncertain significance not provided 2022-12-12 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002486295 SCV002792158 uncertain significance Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2022-01-04 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV002251586 SCV004225210 uncertain significance not provided 2023-06-21 criteria provided, single submitter clinical testing BP4

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