ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.4351-1G>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003337777 SCV004048050 likely pathogenic Imerslund-Grasbeck syndrome type 1 criteria provided, single submitter clinical testing The splice site acceptor c.4351-1G>C variant in CUBN gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. It affects the invariant splice site. The variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic. In the absence of second reportable variant , the molecular diagnosis is not confirmed

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