ClinVar Miner

Submissions for variant NM_002435.3(MPI):c.652A>T (p.Lys218Ter)

gnomAD frequency: 0.00001  dbSNP: rs1057516424
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410869 SCV000485647 likely pathogenic MPI-congenital disorder of glycosylation 2016-01-18 criteria provided, single submitter clinical testing
Invitae RCV000410869 SCV002944359 pathogenic MPI-congenital disorder of glycosylation 2023-12-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys218*) 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 not present in population databases (gnomAD no frequency). 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: 370355). For these reasons, this variant has been classified as Pathogenic.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV000410869 SCV003807505 likely pathogenic MPI-congenital disorder of glycosylation 2022-10-17 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PM2 moderated

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