ClinVar Miner

Submissions for variant NM_002435.3(MPI):c.166C>T (p.Arg56Ter)

gnomAD frequency: 0.00001  dbSNP: rs757168691
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001055884 SCV001220298 pathogenic MPI-congenital disorder of glycosylation 2023-12-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg56*) 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 present in population databases (rs757168691, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with MPI-related conditions. ClinVar contains an entry for this variant (Variation ID: 851479). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001055884 SCV004193279 likely pathogenic MPI-congenital disorder of glycosylation 2023-09-05 criteria provided, single submitter clinical testing

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