ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.2414_2417del (p.Arg805fs)

dbSNP: rs1347035611
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001386792 SCV001587140 pathogenic Deficiency of alpha-mannosidase 2020-07-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg805Metfs*13) in the MAN2B1 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MAN2B1 are known to be pathogenic (PMID: 9915946, 22161967). This variant has not been reported in the literature in individuals with MAN2B1-related conditions. This variant is not present in population databases (ExAC no frequency).
Genome-Nilou Lab RCV001386792 SCV002014065 pathogenic Deficiency of alpha-mannosidase 2021-09-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV001386792 SCV005060744 likely pathogenic Deficiency of alpha-mannosidase 2023-12-04 criteria provided, single submitter clinical testing

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