ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.348+2T>C

gnomAD frequency: 0.00012  dbSNP: rs146047781
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000693751 SCV000821632 likely pathogenic Imerslund-Grasbeck syndrome 2024-10-22 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 3 of the CUBN gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site 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, 25349199, 31613795, 34979989). This variant is present in population databases (rs146047781, gnomAD 0.2%). Disruption of this splice site has been observed in individual(s) with steroid-resistant nephrotic syndrome (PMID: 25349199). ClinVar contains an entry for this variant (Variation ID: 572384). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Revvity Omics, Revvity RCV001784320 SCV002023991 likely pathogenic not provided 2022-06-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005046943 SCV005671881 likely pathogenic Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2024-01-30 criteria provided, single submitter clinical testing

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