ClinVar Miner

Submissions for variant NM_002435.3(MPI):c.612_615del (p.Ser204fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003516607 SCV004306714 pathogenic MPI-congenital disorder of glycosylation 2023-07-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser204Argfs*13) 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.

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