ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.2437-300_2719del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001041850 SCV001205496 likely pathogenic Deficiency of alpha-mannosidase 2019-12-17 criteria provided, single submitter clinical testing This variant results in the deletion of exon 21 and part of exon 22 (c.2437-300_2719del) of the MAN2B1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with MAN2B1-related conditions. Loss-of-function variants in MAN2B1 are known to be pathogenic (PMID: 9915946, 22161967). 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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