ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.590C>G (p.Pro197Arg) (rs864621977)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000207004 SCV000917601 likely pathogenic Deficiency of alpha-mannosidase 2018-12-27 criteria provided, single submitter clinical testing Variant summary: MAN2B1 c.590C>G (p.Pro197Arg) results in a non-conservative amino acid change located in the Glycoside hydrolase family 38, N-terminal domain of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 244732 control chromosomes. c.590C>G has been reported in the literature in an individual affected with Alpha-Mannosidosis (Borgwardt_2015). At least one publication reports experimental evidence evaluating an impact on protein function. The most pronounced variant effect results in <10% of normal activity in regards to intracellular processing and secretion into the medium in transfected cells, indicating an inactive protein (Kuokkanen_2011, Stensland_2015). No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000207004 SCV000243960 uncertain significance Deficiency of alpha-mannosidase 2012-06-07 no assertion criteria provided literature only

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