ClinVar Miner

Submissions for variant NM_005142.3(CBLIF):c.370+83_426del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002717322 SCV003017814 likely pathogenic Hereditary intrinsic factor deficiency 2021-09-13 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant has not been reported in the literature in individuals affected with GIF-related conditions. This variant is not present in population databases (ExAC no frequency). This variant results in the deletion of part of exon 4 (c.370+83_426del) of the GIF gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in GIF are known to be pathogenic (PMID: 14576042, 22929189).

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