ClinVar Miner

Submissions for variant NM_002435.3(MPI):c.1087del (p.Ala363fs)

dbSNP: rs2141209567
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001377577 SCV001574947 pathogenic MPI-congenital disorder of glycosylation 2023-08-16 criteria provided, single submitter clinical testing This variant disrupts a region of the MPI protein in which other variant(s) (p.Ile398Thr) have been determined to be pathogenic (PMID: 10484808, 30545931). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1066557). This variant has not been reported in the literature in individuals affected with MPI-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala363Hisfs*9) in the MPI gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 61 amino acid(s) of the MPI protein.
Baylor Genetics RCV001377577 SCV004193721 likely pathogenic MPI-congenital disorder of glycosylation 2022-11-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001377577 SCV005633275 likely pathogenic MPI-congenital disorder of glycosylation 2024-02-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001377577 SCV002089792 likely pathogenic MPI-congenital disorder of glycosylation 2020-07-21 no assertion criteria provided clinical testing

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