ClinVar Miner

Submissions for variant NM_002435.3(MPI):c.1022dup (p.Val342fs)

dbSNP: rs765310894
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001867370 SCV002133328 pathogenic MPI-congenital disorder of glycosylation 2023-10-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val342Cysfs*17) in the MPI gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 82 amino acid(s) of the MPI protein. 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. ClinVar contains an entry for this variant (Variation ID: 1368178). This variant disrupts a region of the MPI protein in which other variant(s) (p.Ala363Hisfs*9) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001867370 SCV004193278 likely pathogenic MPI-congenital disorder of glycosylation 2023-09-09 criteria provided, single submitter clinical testing

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