ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.10462C>T (p.Arg3488Ter)

dbSNP: rs201426128
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001388387 SCV001589354 pathogenic Imerslund-Grasbeck syndrome 2023-01-10 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: 1074937). This variant has not been reported in the literature in individuals affected with CUBN-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Arg3488*) 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).
Fulgent Genetics, Fulgent Genetics RCV002499808 SCV002811041 likely pathogenic Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2021-12-15 criteria provided, single submitter clinical testing

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