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

dbSNP: rs864621980

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	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