ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.561del (p.Arg188fs)

dbSNP: rs770297337
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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 RCV001939631 SCV002232533 pathogenic Deficiency of alpha-mannosidase 2021-09-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg188Aspfs*58) 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). This variant is present in population databases (rs770297337, ExAC 0.002%). This premature translational stop signal has been observed in individual(s) with MAN2B1-related conditions (PMID: 22161967). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001939631 SCV004191899 pathogenic Deficiency of alpha-mannosidase 2024-01-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001939631 SCV005655517 pathogenic Deficiency of alpha-mannosidase 2024-01-23 criteria provided, single submitter clinical testing

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