ClinVar Miner

Submissions for variant NM_004958.4(MTOR):c.6644C>A (p.Ser2215Tyr) (rs587777894)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Brain Malformations Variant Curation Expert Panel, ClinGen RCV001723975 SCV001949955 pathogenic Brain malformation 2021-03-01 reviewed by expert panel curation The c.6644C>A p.S2215Y missense variant in the MTOR gene is previously reported in the literature and has been classified as PATHOGENIC. This variant has been shown to significantly increase phosphorylation levels in experiments with case and controls cells of similar isogenic backgrounds (PMID: 20190810 , 24631838,28963468;) (PS3_supporting). Testing of unaffected and affected tissue show variable allelic fractions consistent with a post-zygotic event (PMID: 26018084) (PS2_Moderate).This variant has been identified in 5 individuals with neuropathology confirmatory of a malformation of cortical development, 1 individual with neuroimaging appearance consistent with a malformation of cortical development (without neuropathology), 1 individual with neuroimaging demonstrating at least one large cerebral hemisphere with cortical malformation(s), 15 tumor samples in the literature and COSMIC (PMID: 27830187,;29281825,225401301,26619011,) (PS4). This variant is located at the same amino acid as a pathogenic variant p.S2215P (PM5). This variant is absent from the Genome Aggregation Database (http://gnomad.broadinstitute.org) (PM2). This gene has a low rate of benign missense changes (PP2).
Database of Curated Mutations (DoCM) RCV000424789 SCV000505132 likely pathogenic Malignant melanoma of skin 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000435047 SCV000505133 likely pathogenic Glioblastoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000418200 SCV000505134 likely pathogenic Neoplasm of the large intestine 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000428450 SCV000505135 likely pathogenic Malignant neoplasm of body of uterus 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000437777 SCV000505136 likely pathogenic Neoplasm of uterine cervix 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000420146 SCV000505137 likely pathogenic Renal cell carcinoma, papillary, 1 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000431294 SCV000505138 likely pathogenic Papillary renal cell carcinoma, sporadic 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000441543 SCV000505139 likely pathogenic Kidney Carcinoma 2014-12-26 no assertion criteria provided literature only
OMIM RCV000477715 SCV000564173 pathogenic Focal cortical dysplasia type II 2020-09-16 no assertion criteria provided literature only

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.