ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.7378A>G (p.Ile2460Val)

gnomAD frequency: 0.00001  dbSNP: rs565917798
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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 RCV001218695 SCV001390590 uncertain significance Imerslund-Grasbeck syndrome 2022-04-01 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 947587). 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 (rs565917798, gnomAD 0.009%). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 2460 of the CUBN protein (p.Ile2460Val).
Fulgent Genetics, Fulgent Genetics RCV002491680 SCV002791621 uncertain significance Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2022-04-15 criteria provided, single submitter clinical testing

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