ClinVar Miner

Submissions for variant NM_002435.3(MPI):c.166dup (p.Arg56fs)

dbSNP: rs786204593
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169342 SCV000220704 likely pathogenic MPI-congenital disorder of glycosylation 2014-09-17 criteria provided, single submitter literature only
Invitae RCV000169342 SCV000938225 pathogenic MPI-congenital disorder of glycosylation 2024-01-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg56Profs*8) 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 (rs786204593, gnomAD 0.0009%). This premature translational stop signal has been observed in individuals with congenital disorders of glycosylation type Ib (PMID: 10980531, 18928705). ClinVar contains an entry for this variant (Variation ID: 188967). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000169342 SCV004193711 pathogenic MPI-congenital disorder of glycosylation 2023-04-22 criteria provided, single submitter clinical testing
OMIM RCV000169342 SCV000035685 pathogenic MPI-congenital disorder of glycosylation 2000-09-01 no assertion criteria provided literature only
Natera, Inc. RCV000169342 SCV002089776 pathogenic MPI-congenital disorder of glycosylation 2017-08-02 no assertion criteria provided clinical testing

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