ClinVar Miner

Submissions for variant NM_002435.3(MPI):c.843_844+1del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002805808 SCV003029708 uncertain significance MPI-congenital disorder of glycosylation 2022-01-16 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with MPI-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant, c.842_844del, results in the deletion of 1 amino acid(s) of the MPI protein (p.Gly281del), but otherwise preserves the integrity of the reading frame.
Fulgent Genetics, Fulgent Genetics RCV002805808 SCV005633270 likely pathogenic MPI-congenital disorder of glycosylation 2024-04-03 criteria provided, single submitter clinical testing

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