ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.4A>G (p.Met2Val)

gnomAD frequency: 0.00007  dbSNP: rs200499216
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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 RCV003613519 SCV004463190 uncertain significance Imerslund-Grasbeck syndrome 2023-10-08 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 2 of the CUBN protein (p.Met2Val). This variant is present in population databases (rs200499216, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with CUBN-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV004790591 SCV005410960 uncertain significance not provided 2024-04-16 criteria provided, single submitter clinical testing BP4

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