ClinVar Miner

Submissions for variant NM_001081.3(CUBN):c.1865del (p.Thr622fs) (rs386833771)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000321365 SCV000329945 pathogenic not provided 2018-04-10 criteria provided, single submitter clinical testing The c.1865delC pathogenic variant in the CUBN gene has been reported previously, with another variant, in association with inherited cobalamin malabsorption (Tanner et al., 2012). The c.1865delC variant causes a frameshift starting with codon Threonine 622, changes this amino acid to a Isoleucine residue, and creates a premature Stop codon at position 7 of the new reading frame, denoted p.Thr622IlefsX7. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1865delC variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.1865delC as a pathogenic variant.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000321365 SCV000861332 pathogenic not provided 2018-06-01 criteria provided, single submitter clinical testing
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049735 SCV000082142 probable-pathogenic Megaloblastic anemia due to inborn errors of metabolism no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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