ClinVar Miner

Submissions for variant NM_002435.3(MPI):c.251C>G (p.Ser84Ter)

gnomAD frequency: 0.00001  dbSNP: rs978284448
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001903822 SCV002174916 pathogenic MPI-congenital disorder of glycosylation 2022-06-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with MPI-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Ser84*) 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).
Baylor Genetics RCV001903822 SCV004193276 likely pathogenic MPI-congenital disorder of glycosylation 2023-10-03 criteria provided, single submitter clinical testing

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