ClinVar Miner

Submissions for variant NM_002435.3(MPI):c.1001_1004del (p.Tyr334fs)

dbSNP: rs2141208628
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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 RCV001379468 SCV001577271 likely pathogenic MPI-congenital disorder of glycosylation 2020-08-11 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the MPI gene (p.Tyr334Serfs*14). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 90 amino acids of the MPI protein. This variant has not been reported in the literature in individuals with MPI-related conditions. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the p.Ile398 amino acid residue in MPI. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 10484808, 30545931). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing.

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