ClinVar Miner

Submissions for variant NM_002435.3(MPI):c.13C>T (p.Arg5Ter)

gnomAD frequency: 0.00001  dbSNP: rs1452559752
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669767 SCV000794550 likely pathogenic MPI-congenital disorder of glycosylation 2017-09-28 criteria provided, single submitter clinical testing
Invitae RCV000669767 SCV002237068 pathogenic MPI-congenital disorder of glycosylation 2021-07-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 554184). This variant has not been reported in the literature in individuals affected with MPI-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg5*) 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 RCV000669767 SCV004193280 likely pathogenic MPI-congenital disorder of glycosylation 2023-09-03 criteria provided, single submitter clinical testing

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