ClinVar Miner

Submissions for variant NM_002435.3(MPI):c.718C>T (p.Gln240Ter)

gnomAD frequency: 0.00001  dbSNP: rs776340315
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001972499 SCV002245759 pathogenic MPI-congenital disorder of glycosylation 2023-11-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln240*) 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 (rs776340315, 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: 1456895). For these reasons, this variant has been classified as Pathogenic.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV001972499 SCV003806991 likely pathogenic MPI-congenital disorder of glycosylation 2022-03-02 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PM2
Baylor Genetics RCV001972499 SCV004193269 likely pathogenic MPI-congenital disorder of glycosylation 2023-10-16 criteria provided, single submitter clinical testing

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