ClinVar Miner

Submissions for variant NM_004958.4(MTOR):c.6644C>T (p.Ser2215Phe) (rs587777894)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Brain Malformations Variant Curation Expert Panel, ClinGen RCV001723707 SCV001949956 pathogenic Brain malformation 2021-01-31 reviewed by expert panel curation The 6644C>T S2215P missense variant in the MTOR gene is previously reported in the literature and has been classified as PATHOGENIC. This variant has been confirmed de novo and has been shown to be consistent with a post-zygotic event (PMIDs: 27159400 27159400, 27830187 Moller)(PS2_Strong). This variant has been shown to significantly increase phosphorylation levels in experiments with case and controls cells of similar isogenic backgrounds(PMID: 27159400) (PS3_supporting). This variant has been identified in 8 individuals with neuropathology confirmatory of a malformation of cortical development and 19 tumor samples in the literature and COSMIC (PMIDs: 27159400 27830187) (PS4_Strong). 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).
James Howe Lab,University of Iowa Hospital and Clinics RCV000190281 SCV000191089 not provided not provided no assertion provided not provided
Database of Curated Mutations (DoCM) RCV000436863 SCV000506739 likely pathogenic Glioblastoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000419624 SCV000506740 likely pathogenic Renal cell carcinoma, papillary, 1 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000430308 SCV000506741 likely pathogenic Neoplasm of the large intestine 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000439373 SCV000506742 likely pathogenic Malignant neoplasm of body of uterus 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000422164 SCV000506743 likely pathogenic Malignant melanoma of skin 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000429373 SCV000506744 likely pathogenic Papillary renal cell carcinoma, sporadic 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000440054 SCV000506745 likely pathogenic Neoplasm of uterine cervix 2016-05-31 no assertion criteria provided literature only
OMIM RCV000477713 SCV000564176 pathogenic Focal cortical dysplasia type II 2020-09-16 no assertion criteria provided literature only

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