ClinVar Miner

Submissions for variant NM_002435.3(MPI):c.166dup (p.Arg56fs) (rs786204593)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169342 SCV000220704 likely pathogenic Congenital disorder of glycosylation type 1B 2014-09-17 criteria provided, single submitter literature only
Invitae RCV000169342 SCV000938225 pathogenic Congenital disorder of glycosylation type 1B 2018-11-26 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. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with congenital disorder of glycosylation type Ib (PMID: 10980531, 18928705). ClinVar contains an entry for this variant (Variation ID: 188967). Loss-of-function variants in MPI are known to be pathogenic (PMID: 19862844). For these reasons, this variant has been classified as Pathogenic.

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