ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.5982G>A (p.Pro1994=)

gnomAD frequency: 0.00001  dbSNP: rs560009723
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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 RCV001913156 SCV002169315 uncertain significance Imerslund-Grasbeck syndrome 2022-07-25 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 1401828). This variant has not been reported in the literature in individuals affected with CUBN-related conditions. This variant is present in population databases (rs560009723, gnomAD 0.05%). This sequence change affects codon 1994 of the CUBN mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CUBN protein.
Fulgent Genetics, Fulgent Genetics RCV002482790 SCV002778859 uncertain significance Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2021-11-12 criteria provided, single submitter clinical testing

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