ClinVar Miner

Submissions for variant NM_002435.3(MPI):c.414G>A (p.Met138Ile) (rs150217523)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523642 SCV000617147 uncertain significance not provided 2017-06-22 criteria provided, single submitter clinical testing The M138I variant in the MPI gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is observed in 66/10,400 alleles (0.63%) from individuals of African background in the ExAC dataset (Lek et al., 2016). The M138I variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In addition, this substitution occurs at a position where amino acids with similar properties to Methionine are tolerated across species, and Isoleucine is present in three mammalian species. However, in silico analysis predicts this variant is probably damaging to the protein structure/function. Missense variants in the same codon (M138T) and a nearby residue (I140T) have been reported in the Human Gene Mutation Database in association with CDG1B (Jaeken et al., 1998; Stenson et al., 2014), supporting the functional importance of this region of the protein. We therefore interpret M138I as a variant of uncertain significance.
Invitae RCV001083362 SCV001005085 likely benign MPI-CDG 2020-11-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV001083362 SCV001454926 benign MPI-CDG 2019-10-28 no assertion criteria provided clinical testing

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