ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.7001-2del

dbSNP: rs756427983
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001377461 SCV001574798 likely pathogenic Imerslund-Grasbeck syndrome 2020-08-18 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in CUBN are known to be pathogenic (PMID: 15024727, 22929189). This variant has not been reported in the literature in individuals with CUBN-related conditions. This variant is present in population databases (rs756427983, ExAC 0.002%). This sequence change affects an acceptor splice site in intron 45 of the CUBN gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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