ClinVar Miner

Submissions for variant NM_005142.3(CBLIF):c.67_68del (p.Gln23fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV005234227 SCV005877949 likely pathogenic Hereditary intrinsic factor deficiency 2024-03-27 criteria provided, single submitter clinical testing The CBLIF c.67_68del; p.Gln23GlufsTer86 variant (rs1323772405), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is only observed on one allele in the Genome Aggregation Database (v2.1.1), indicating it is not a common polymorphism. This variant causes a frameshift by deleting 2 nucleotides, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered to be likely pathogenic.

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