ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.4165del (p.Tyr1389fs)

dbSNP: rs774493547
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV001535916 SCV001752561 likely pathogenic Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2022-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001865832 SCV002219858 pathogenic Imerslund-Grasbeck syndrome 2023-12-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr1389Thrfs*74) in the CUBN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CUBN are known to be pathogenic (PMID: 15024727, 22929189, 25349199, 31613795, 34979989). This variant is present in population databases (rs774493547, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with CUBN-related conditions. ClinVar contains an entry for this variant (Variation ID: 1033271). For these reasons, this variant has been classified as Pathogenic.

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