ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.1055T>C (p.Leu352Pro) (rs864621980)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000206932 SCV001395540 likely pathogenic Deficiency of alpha-mannosidase 2019-05-15 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 352 of the MAN2B1 protein (p.Leu352Pro). The leucine residue is moderately conserved and there is a moderate physicochemical difference between leucine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with mannosidosis in a family (PMID: 22161967). ClinVar contains an entry for this variant (Variation ID: 208261). This variant has been reported to affect MAN2B1 protein function (PMID: 22161967, 21505070). 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.
Department of Medical Genetics, Oslo University Hospital RCV000206932 SCV001437578 likely pathogenic Deficiency of alpha-mannosidase criteria provided, single submitter clinical testing
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000206932 SCV000243967 uncertain significance Deficiency of alpha-mannosidase 2012-06-07 no assertion criteria provided literature only

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