ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.3932G>A (p.Arg1311Gln)

gnomAD frequency: 0.00001  dbSNP: rs1037514591
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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 RCV000700444 SCV000829199 uncertain significance Imerslund-Grasbeck syndrome 2021-08-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507220 SCV002778927 uncertain significance Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2021-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002533589 SCV003704018 likely benign Inborn genetic diseases 2022-04-07 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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