ClinVar Miner

Submissions for variant NM_002435.3(MPI):c.169G>A (p.Gly57Arg)

dbSNP: rs1225376562
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biochemistry and Genetic Laboratory, APHP Bichat Claude Bernard Hospital RCV001310276 SCV001499897 likely pathogenic MPI-congenital disorder of glycosylation 2020-11-19 no assertion criteria provided clinical testing The Gly57Arg variant in the MPI gene was reported in a French patient in a compound heterozygosity state with a known splicing variant c.345 + 1G> A. The c.169G>A, p.Gly57Arg variant was absent from the gnomAD and dbSNP databases. In addition, PMI activity was found to be collapsed and intermediate for both parents. These results are in favor of a MPI-CDG of autosomal recessive transmission. The disease was diagnosed following a deep vein thrombosis of the right lower limb at the age of 12 years associated with low antithrombin III level and a subsequent hepatic exploration showed slight increased hepatic elasticity and transaminase ALAT.

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