ClinVar Miner

Submissions for variant NM_002435.3(MPI):c.679G>T (p.Gly227Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003470171 SCV004193705 likely pathogenic MPI-congenital disorder of glycosylation 2023-06-22 criteria provided, single submitter clinical testing
Invitae RCV003470171 SCV004673330 pathogenic MPI-congenital disorder of glycosylation 2023-10-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly227*) in the MPI gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MPI are known to be pathogenic (PMID: 19862844). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MPI-related conditions. For these reasons, this variant has been classified as Pathogenic.

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