ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.2013del (p.Pro671_Val672insTer)

gnomAD frequency: 0.00002  dbSNP: rs999923581
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001052695 SCV001216919 pathogenic Deficiency of alpha-mannosidase 2019-01-28 criteria provided, single submitter clinical testing This variant has been observed in an individual affected with mannosidosis (PMID: 22161967) This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val672*) in the MAN2B1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MAN2B1 are known to be pathogenic (PMID: 9915946, 22161967). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001052695 SCV004191917 pathogenic Deficiency of alpha-mannosidase 2022-09-23 criteria provided, single submitter clinical testing

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