ClinVar Miner

Submissions for variant NM_002435.3(MPI):c.713del (p.Leu238fs)

dbSNP: rs745432667
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001994528 SCV002234888 pathogenic MPI-congenital disorder of glycosylation 2023-02-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu238Cysfs*20) 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 (rs745432667, gnomAD 0.003%). 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: 1452353). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001994528 SCV004195527 likely pathogenic MPI-congenital disorder of glycosylation 2024-02-27 criteria provided, single submitter clinical testing

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