ClinVar Miner

Submissions for variant NM_002435.3(MPI):c.844+1G>A

dbSNP: rs1394866894
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669864 SCV000794656 likely pathogenic MPI-congenital disorder of glycosylation 2017-10-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000669864 SCV001577386 likely pathogenic MPI-congenital disorder of glycosylation 2022-08-16 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 554263). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change affects a donor splice site in intron 6 of the MPI gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in MPI are known to be pathogenic (PMID: 19862844).
Baylor Genetics RCV000669864 SCV005053354 likely pathogenic MPI-congenital disorder of glycosylation 2023-12-20 criteria provided, single submitter clinical testing

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