ClinVar Miner

Submissions for variant NM_002435.3(MPI):c.880dup (p.Val294fs)

dbSNP: rs1555479351
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665285 SCV000789378 likely pathogenic MPI-congenital disorder of glycosylation 2017-01-26 criteria provided, single submitter clinical testing
Invitae RCV000665285 SCV001590071 pathogenic MPI-congenital disorder of glycosylation 2020-09-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MPI are known to be pathogenic (PMID: 19862844). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with MPI-related conditions. ClinVar contains an entry for this variant (Variation ID: 550519). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val294Glyfs*11) in the MPI gene. It is expected to result in an absent or disrupted protein product.
Baylor Genetics RCV000665285 SCV004193716 likely pathogenic MPI-congenital disorder of glycosylation 2023-02-01 criteria provided, single submitter clinical testing

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