ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.10612G>T (p.Glu3538Ter)

gnomAD frequency: 0.00002  dbSNP: rs756614749
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001780594 SCV002019775 pathogenic not provided 2019-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002478008 SCV002775636 likely pathogenic Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2022-05-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003505186 SCV004266783 pathogenic Imerslund-Grasbeck syndrome 2022-11-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1322175). This variant has not been reported in the literature in individuals affected with CUBN-related conditions. This variant is present in population databases (rs756614749, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Glu3538*) 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, 34979989).

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