ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.4771G>C (p.Val1591Leu)

dbSNP: rs201056237
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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 RCV002954322 SCV003281808 uncertain significance Imerslund-Grasbeck syndrome 2022-04-20 criteria provided, single submitter clinical testing 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. 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 tolerated. This variant has not been reported in the literature in individuals affected with CUBN-related conditions. This variant is present in population databases (rs201056237, gnomAD 0.005%). This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1591 of the CUBN protein (p.Val1591Leu).
Fulgent Genetics, Fulgent Genetics RCV005034521 SCV005666369 uncertain significance Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2024-03-22 criteria provided, single submitter clinical testing

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