ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.4350+5G>A (rs200324164)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000983940 SCV001131990 likely benign Imerslund-Gräsbeck syndrome 2020-09-19 criteria provided, single submitter clinical testing
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute RCV001251509 SCV001427155 uncertain significance Imerslund-Gräsbeck syndrome 1 2018-11-21 criteria provided, single submitter clinical testing A heterozygous splice-site variant, NM_001081.3(CUBN):c.4350+5G>A, has been identified in intron 29 of 66 of the CUBN gene. The effect of this variant on the protein sequence is unknown. The nucleotide at this position has high conservation (Phylop UCSC). In silico predictions for this variant are conflicting (Human splice finder, NetGene2, BDGB); further testing via RNA studies are required to confirm if splicing is altered. The variant is present in the gnomAD database at a frequency of 0.03% (80 heterozygotes, 0 homozygotes) but it has not been previously reported in clinical cases. Based on the information available at the time of curation, this variant has been classified as a VARIANT of UNCERTAIN SIGNIFICANCE (VUS).

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