ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.215A>T (p.His72Leu) (rs387906261)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000001752 SCV001581395 pathogenic Deficiency of alpha-mannosidase 2020-01-13 criteria provided, single submitter clinical testing This sequence change replaces histidine with leucine at codon 72 of the MAN2B1 protein (p.His72Leu). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with alpha-mannosidosis (PMID: 9158146, Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 1684). This variant has been reported to affect MAN2B1 protein function (PMID: 15035660, 26817023). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000001752 SCV000021908 pathogenic Deficiency of alpha-mannosidase 1998-10-01 no assertion criteria provided literature only
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000001752 SCV000243988 uncertain significance Deficiency of alpha-mannosidase 2012-06-07 no assertion criteria provided literature only

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