ClinVar Miner

Submissions for variant NM_002435.3(MPI):c.992A>C (p.Glu331Ala)

gnomAD frequency: 0.00001  dbSNP: rs1223295146
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332132 SCV001524349 uncertain significance MPI-congenital disorder of glycosylation 2019-02-08 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001332132 SCV001569311 uncertain significance MPI-congenital disorder of glycosylation 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with alanine at codon 331 of the MPI protein (p.Glu331Ala). The glutamic acid residue is weakly conserved and there is a moderate physicochemical difference between glutamic acid and alanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with MPI-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001332132 SCV002089789 uncertain significance MPI-congenital disorder of glycosylation 2020-04-29 no assertion criteria provided clinical testing

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