ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.5511dup (p.Gly1838fs)

dbSNP: rs1168074679
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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 RCV000625651 SCV000957876 pathogenic Imerslund-Grasbeck syndrome 2018-10-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Gly1838Trpfs*17) in the CUBN gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CUBN-related disease. ClinVar contains an entry for this variant (Variation ID: 522509). Loss-of-function variants in CUBN are known to be pathogenic (PMID: 15024727, 22929189).
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000625651 SCV000746154 likely pathogenic Imerslund-Grasbeck syndrome 2017-10-09 no assertion criteria provided clinical testing

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