ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.1420-1G>A

gnomAD frequency: 0.00001  dbSNP: rs752229880
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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 RCV002035767 SCV002290994 likely pathogenic Deficiency of alpha-mannosidase 2021-05-04 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 11 of the MAN2B1 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 MAN2B1 are known to be pathogenic (PMID: 9915946, 22161967). This variant is present in population databases (rs752229880, ExAC 0.002%). This variant has not been reported in the literature in individuals with MAN2B1-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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.

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