ClinVar Miner

Submissions for variant NM_002435.3(MPI):c.1049C>T (p.Thr350Met)

gnomAD frequency: 0.00153  dbSNP: rs116933453
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000080010 SCV000111903 benign not specified 2013-02-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000528736 SCV000393951 likely benign MPI-CDG 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV000528736 SCV000645194 benign MPI-CDG 2021-12-18 criteria provided, single submitter clinical testing
GeneDx RCV000080010 SCV000715122 likely benign not specified 2018-02-06 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000080010 SCV002103669 likely benign not specified 2022-02-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV000528736 SCV002089791 benign MPI-CDG 2019-10-21 no assertion criteria provided clinical testing

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