ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.2476G>A (p.Val826Ile)

gnomAD frequency: 0.00005  dbSNP: rs141874896
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002008366 SCV002273524 uncertain significance Imerslund-Grasbeck syndrome 2023-08-30 criteria provided, single submitter clinical testing This variant is present in population databases (rs141874896, gnomAD 0.03%). 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: 1485050). 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. 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. This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 826 of the CUBN protein (p.Val826Ile).
Fulgent Genetics, Fulgent Genetics RCV002486530 SCV002782174 uncertain significance Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2021-12-05 criteria provided, single submitter clinical testing

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