ClinVar Miner

Submissions for variant NM_002435.3(MPI):c.303C>T (p.Leu101=)

gnomAD frequency: 0.00240  dbSNP: rs139228075
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724297 SCV000228990 uncertain significance not provided 2014-12-19 criteria provided, single submitter clinical testing
GeneDx RCV000177159 SCV000527186 likely benign not specified 2018-01-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001083602 SCV001013514 benign MPI-congenital disorder of glycosylation 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001083602 SCV001276096 uncertain significance MPI-congenital disorder of glycosylation 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genetic Services Laboratory, University of Chicago RCV000177159 SCV002066637 benign not specified 2021-02-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000724297 SCV004132843 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing MPI: BP4, BP7
Clinical Genetics, Academic Medical Center RCV000177159 SCV001923252 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000724297 SCV001966786 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV001083602 SCV002089780 benign MPI-congenital disorder of glycosylation 2019-10-21 no assertion criteria provided clinical testing

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