ClinVar Miner

Submissions for variant NM_002435.3(MPI):c.631del (p.Glu211fs)

dbSNP: rs1374119101
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001045605 SCV001209468 pathogenic MPI-congenital disorder of glycosylation 2023-06-17 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 843069). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with MPI-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu211Asnfs*7) 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 RCV001045605 SCV004193724 pathogenic MPI-congenital disorder of glycosylation 2023-11-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001045605 SCV005633264 likely pathogenic MPI-congenital disorder of glycosylation 2024-03-20 criteria provided, single submitter clinical testing

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