ClinVar Miner

Submissions for variant NC_000015.9:g.(?_75188483)_(75190081_?)del

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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 RCV001378106 SCV001575601 likely pathogenic MPI-congenital disorder of glycosylation 2022-06-20 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 6-8 of the MPI gene, which includes the termination codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to alter mRNA translation or result in a truncated protein product. This variant has not been reported in the literature in individuals affected with MPI-related conditions. 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. 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.

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