VCV000217823.54 - ClinVar

NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys)

Germline

Classification

The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.

(17)

Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.

Pathogenic

criteria provided, multiple submitters, no conflicts

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys)

Variation ID: 217823 Accession: VCV000217823.54

Type and length

single nucleotide variant, 1 bp

Location

Cytogenetic: 1p36.22 1: 11130747 (GRCh38) [ NCBI UCSC ] 1: 11190804 (GRCh37) [ NCBI UCSC ]

Timeline in ClinVar

	First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.	Last submission Help The date of the most recent submission for each type of classification for this variant.	Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline	Mar 8, 2017	Oct 20, 2024	Dec 13, 2023

HGVS

Nucleotide	Protein	Molecular consequence
NM_004958.4:c.5395G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_004949.1:p.Glu1799Lys	missense
NC_000001.11:g.11130747C>T
NC_000001.10:g.11190804C>T
NG_033239.1:g.136805G>A
LRG_734:g.136805G>A
LRG_734t1:c.5395G>A
	P42345:p.Glu1799Lys

... more HGVS ... less HGVS

Protein change

E1799K

Other names

Canonical SPDI

NC_000001.11:11130746:C:T

Functional consequence Help The effect of the variant on RNA or protein function, based on experimental evidence from submitters.

Global minor allele frequency (GMAF) Help The global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.

Allele frequency Help The frequency of the allele represented by this VCV record.

Links

ClinGen: CA279594 UniProtKB: P42345#VAR_075072 OMIM: 601231.0002 dbSNP: rs863225264 VarSome

Genes

Gene	OMIM	ClinGen Gene Dosage Sensitivity Curation		Variation Viewer Help Links to Variation Viewer, a genome browser to view variation data from NCBI databases.	Related variants
Gene	OMIM	HI score Help The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.	TS score Help The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.		Within gene Help The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants.	All Help The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene.
MTOR		-	-	GRCh38 GRCh37	2419	2608

Conditions - Germline

Condition Help The condition for this variant-condition (RCV) record in ClinVar.	Classification Help The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions)	Review status Help The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status.	Last evaluated Help The most recent date that a submitter evaluated this variant for the condition.	Variation/condition record Help The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page.
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	Pathogenic (6)	criteria provided, multiple submitters, no conflicts	Sep 30, 2022	RCV000201885.13
not provided	Pathogenic (4)	criteria provided, multiple submitters, no conflicts	Dec 13, 2023	RCV000255268.38
Inborn genetic diseases	Pathogenic (1)	criteria provided, single submitter	Apr 27, 2016	RCV000624365.5
Isolated focal cortical dysplasia type II	Pathogenic (1)	criteria provided, single submitter	Jul 10, 2019	RCV001329983.3
CEBALID syndrome	Pathogenic (1)	criteria provided, single submitter	Sep 1, 2020	RCV001260508.4
Intellectual disability, severe	Pathogenic (1)	no assertion criteria provided	-	RCV001003568.3
Rare genetic intellectual disability	Pathogenic (1)	no assertion criteria provided	-	RCV001256976.4
Intellectual disability	Pathogenic (1)	criteria provided, single submitter	Aug 2, 2021	RCV001544505.4
Isolated focal cortical dysplasia type II Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	Pathogenic (1)	criteria provided, single submitter	-	RCV003883143.1

Submissions - Germline

Classification Help The submitted germline classification for each SCV record. (Last evaluated)	Review status Help Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria)	Condition Help The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant.	Submitter Help The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar.	More information Help This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter.
Pathogenic (Jan 01, 2019)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome Affected status: yes Allele origin: de novo	Institute of Human Genetics, University of Leipzig Medical Center Accession: SCV001439961.1 First in ClinVar: Oct 31, 2020 Last updated: Oct 31, 2020	Comment: This variant was identified as de novo.
Pathogenic (Sep 01, 2020)	criteria provided, single submitter (Baynam G et al, 2015) Method: clinical testing	MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities Affected status: yes Allele origin: somatic	Equipe Genetique des Anomalies du Developpement, Université de Bourgogne Accession: SCV001437529.1 First in ClinVar: Oct 10, 2020 Last updated: Oct 10, 2020	Publications: PubMed (1) PubMed: 25851998 Observation 1: Observation 2:
Pathogenic (Jul 10, 2019)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Isolated focal cortical dysplasia type II Affected status: yes Allele origin: unknown	Baylor Genetics Accession: SCV001521562.1 First in ClinVar: Mar 22, 2021 Last updated: Mar 22, 2021	Comment: This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Pathogenic (Dec 30, 2020)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	not provided Affected status: yes Allele origin: germline	Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center Accession: SCV002051550.2 First in ClinVar: Jan 08, 2022 Last updated: Feb 11, 2022	Comment: PS4, PS3, PM6
Pathogenic (Dec 13, 2023)	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) Method: clinical testing	not provided Affected status: unknown Allele origin: germline	Labcorp Genetics (formerly Invitae), Labcorp Accession: SCV000965481.6 First in ClinVar: Aug 14, 2019 Last updated: Feb 14, 2024	Publications: PubMed (7) PubMed: 25851998‚ 26542245‚ 27159400‚ 27513193‚ 27753196‚ 28475857‚ 24631838 Comment: This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1799 of the MTOR protein … (more) This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1799 of the MTOR protein (p.Glu1799Lys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Smith‚ÄìKingsmore syndrome or MTOR-related megalencephaly and intellectual disability (PMID: 25851998, 26542245, 27159400, 27513193, 27753196, 28475857). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 217823). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MTOR protein function with a negative predictive value of 95%. Experimental studies have shown that this missense change affects MTOR function (PMID: 24631838, 25851998). For these reasons, this variant has been classified as Pathogenic. (less)
Pathogenic (Nov 01, 2019)	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2) Method: clinical testing	not provided Affected status: yes Allele origin: germline	CeGaT Center for Human Genetics Tuebingen Accession: SCV001247275.26 First in ClinVar: May 09, 2020 Last updated: Oct 20, 2024	Number of individuals with the variant: 1
Pathogenic (Aug 02, 2021)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Intellectual disability (Sporadic) Affected status: yes Allele origin: de novo	Génétique des Maladies du Développement, Hospices Civils de Lyon Accession: SCV001762520.1 First in ClinVar: Aug 05, 2021 Last updated: Aug 05, 2021	Comment: de novo variant, absent from gnomAD. Smith-Kingsmore syndrome
Pathogenic (Mar 22, 2021)	criteria provided, single submitter (ICSLVariantClassificationCriteria RUGD 01 April 2020) Method: clinical testing	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome Affected status: unknown Allele origin: unknown	Illumina Laboratory Services, Illumina Accession: SCV001786563.1 First in ClinVar: Aug 14, 2021 Last updated: Aug 14, 2021	Publications: PubMed (7) PubMed: 24631838‚ 25851998‚ 26542245‚ 27159400‚ 27753196‚ 28892148‚ 31441589 Comment: The MTOR c.5395G>A (p.Glu1799Lys) variant is a missense variant that has been described in a heterozygous state in at least 12 individuals from seven unrelated … (more) The MTOR c.5395G>A (p.Glu1799Lys) variant is a missense variant that has been described in a heterozygous state in at least 12 individuals from seven unrelated families with features of Smith-Kingsmore syndrome (Baynam et al. 2015; Mroske et al. 2015; Mirzaa et al. 2016; Moosa et al. 2017; Gordo et al. 2018; Dobyns and Mirzaa 2019). An additional feature of multiple intestinal polyps was reported in one individual. In multiple cases, the variant was shown to occur de novo. In at least three families, the variant was found in multiple affected children despite not being detected in the parent's blood, suggesting gonadal mosaicism. The p.Glu1799Lys variant is not reported in the Genome Aggregation Database in a region of good sequence coverage, so the variant is presumed to be rare. Glu1799 is located in the FAT domain, which serves to regulate MTOR activity, and experiments in patient cells, human cell lines, and cultured rodent neurons have confirmed a gain-of-function effect of the p.Glu1799Lys variant (Grabiner et al. 2014; Baynam et al. 2015; Mirzaa et al. 2016). Based on the collective evidence, the p.Glu1799Lys variant is classified as pathogenic for Smith-Kingsmore syndrome. (less)
Pathogenic (Jun 21, 2021)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome Affected status: yes Allele origin: de novo	Centogene AG - the Rare Disease Company Accession: SCV002059570.1 First in ClinVar: Jan 08, 2022 Last updated: Jan 08, 2022
Pathogenic (Apr 27, 2016)	criteria provided, single submitter (Ambry exome assertion method (8-5-2015)) Method: clinical testing	Inborn genetic diseases Affected status: yes Allele origin: germline	Ambry Genetics Accession: SCV000741517.3 First in ClinVar: Apr 15, 2018 Last updated: Jan 07, 2023	Publications: PubMed (4) PubMed: 23636326‚ 24631838‚ 27159400‚ 27753196 Observation 1: Number of individuals with the variant: 1 Sex: male Ethnicity/Population group: Unknown Observation 2: Number of individuals with the variant: 1 Clinical Features: Global developmental delay (present) , Intellectual disability (present) , Hypoplasia of the corpus callosum (present) , Macrocephalus (present) , Autistic disorder of childhood onset (present) … (more) Global developmental delay (present) , Intellectual disability (present) , Hypoplasia of the corpus callosum (present) , Macrocephalus (present) , Autistic disorder of childhood onset (present) , Overgrowth (present) , Vomiting (present) , Sleep disturbance (present) , Bruising susceptibility (present) , Depressed nasal bridge (present) , Prominent forehead (present) , Open mouth (present) , Attention deficit hyperactivity disorder (present) , Gastroesophageal reflux (present) , Episodic vomiting (present) , Multiple cafe-au-lait spots (present) , Absent speech (present) , Facial hypotonia (present) , Hyperhidrosis (present) , Polydipsia (present) (less) Sex: male Ethnicity/Population group: African American/Caucasian/German Observation 3: Number of individuals with the variant: 1 Sex: female Ethnicity/Population group: African American/Caucasian
Pathogenic (Dec 30, 2021)	criteria provided, single submitter (GeneDx Variant Classification Process June 2021) Method: clinical testing	Not Provided Affected status: yes Allele origin: germline	GeneDx Accession: SCV000321909.10 First in ClinVar: Oct 09, 2016 Last updated: Mar 04, 2023	Comment: Functional studies indicate that E1799K results in an increase in mTOR pathway activity, suggesting a gain-of-function mechanism of disease (Baynam, et al., 2015); In silico … (more) Functional studies indicate that E1799K results in an increase in mTOR pathway activity, suggesting a gain-of-function mechanism of disease (Baynam, et al., 2015); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27739187, 27159400, 25851998, 26542245, 27513193, 27753196, 28892148, 28475857, 32581362, 33077954, 23636326, 24631838, 31441589, 31064327, 30764584, 30050716, 29296277, 27860216, 28007777, 24625776, 26432419) (less)
Pathogenic (Sep 30, 2022)	criteria provided, single submitter (Accession Criteria ClinVar Biomnis) Method: clinical testing	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome Affected status: yes Allele origin: germline	Eurofins-Biomnis Accession: SCV003935104.1 First in ClinVar: Jun 24, 2023 Last updated: Jun 24, 2023
pathogenic (-)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome Isolated focal cortical dysplasia type II Explanation for multiple conditions: Uncertain. The variant was classified for several related diseases, possibly a spectrum of disease; the variant may be associated with one or more the diseases. Affected status: yes Allele origin: de novo	Molecular Genetics Lab, CHRU Brest Accession: SCV004697599.1 First in ClinVar: Mar 05, 2024 Last updated: Mar 05, 2024
Pathogenic (Jul 01, 2015)	no assertion criteria provided Method: literature only	SMITH-KINGSMORE SYNDROME Affected status: not provided Allele origin: germline	OMIM Accession: SCV000256631.3 First in ClinVar: Nov 15, 2015 Last updated: Apr 21, 2018	Publications: PubMed (4) PubMed: 25851998‚ 26542245‚ 27159400‚ 27753196 Comment on evidence: In 3 Aboriginal Australian sibs, aged 2, 3, and 7 years, with intellectual disability, macrocephaly, seizures, facial dysmorphism, and small thoraces (SKS; 616638), Baynam et … (more) In 3 Aboriginal Australian sibs, aged 2, 3, and 7 years, with intellectual disability, macrocephaly, seizures, facial dysmorphism, and small thoraces (SKS; 616638), Baynam et al. (2015) identified a de novo c.5395G-A transition in exon 39 of the MTOR gene, resulting in a glu1799-to-lys (E1799K) substitution at a conserved residue. Peripheral blood cells derived from 1 of the patients showed increased mTOR activity when stimulated, and the increased response was inhibited by coincubation with rapamycin. The findings were consistent with a gain-of-function effect at the cellular level. Because the 3 sibs had different fathers and the mutation was not detected in the mother's peripheral blood, Baynam et al. (2015) suggested that the mother was gonadal mosaic for the mutation. Mroske et al. (2015) identified a de novo heterozygous E1799K mutation in 2 brothers with SKS. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, was not found in the peripheral blood of either parent, suggesting it orginated as a consequence of gonadal mosaicism. The mutation was not present in the dbSNP, 1000 Genomes Project, or ExAC databases. Based on molecular modeling, Mroske et al. (2015) noted that the E1799K mutation occurs in the FAT domain, which clamps onto the kinase domain and negatively regulates MTOR activity. Disruption of this residue may detabilize the protein and shift it to a more active state. Mirzaa et al. (2016) reported 4 children, including identical twins, with a mosaic MTOR mutation E1799K present at an alternative allele ratio of about 50% in saliva or white blood cells; no neurologic tissue was available for quantitation. All 4 children had symmetric megalencephaly and intellectual disability, but limited or no polymicrogyria. The twins had autism. In 2 sibs, born of unrelated German parents, with SKS, Moosa et al. (2017) identified a de novo heterozygous E1799K mutation in the MTOR gene. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, was not detected in the parents' peripheral blood. Additional sequencing indicated that the mutation was located on the paternal chromosome, which Moosa et al. (2017) suggested was consistent with paternal gonadal mosaicism. Functional studies of the variant and studies of patient cells were not performed. (less)
Pathogenic (-)	no assertion criteria provided Method: research	Intellectual disability, severe Affected status: yes Allele origin: unknown	NIHR Bioresource Rare Diseases, University of Cambridge Accession: SCV001161929.1 First in ClinVar: Feb 27, 2020 Last updated: Feb 27, 2020	Publications: PubMed (1) PubMed: 32581362 Number of individuals with the variant: 1 Sex: male
Pathogenic (Oct 19, 2020)	no assertion criteria provided Method: literature only	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome Affected status: yes Allele origin: de novo	Yale Center for Mendelian Genomics, Yale University Study: Yale Center for Mendelian Genomics Accession: SCV002106928.1 First in ClinVar: Mar 23, 2022 Last updated: Mar 23, 2022	Publications: PubMed (1) PubMed: 33077954
Pathogenic (-)	no assertion criteria provided Method: clinical testing	Rare genetic intellectual disability Affected status: yes Allele origin: de novo	Service de Génétique Moléculaire, Hôpital Robert Debré Accession: SCV001433522.1 First in ClinVar: Sep 27, 2020 Last updated: Sep 27, 2020
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Comment:

This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1799 of the MTOR protein (p.Glu1799Lys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Smith‚ÄìKingsmore syndrome or MTOR-related megalencephaly and intellectual disability (PMID: 25851998, 26542245, 27159400, 27513193, 27753196, 28475857). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 217823). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MTOR protein function with a negative predictive value of 95%. Experimental studies have shown that this missense change affects MTOR function (PMID: 24631838, 25851998). For these reasons, this variant has been classified as Pathogenic.

Comment:

The MTOR c.5395G>A (p.Glu1799Lys) variant is a missense variant that has been described in a heterozygous state in at least 12 individuals from seven unrelated families with features of Smith-Kingsmore syndrome (Baynam et al. 2015; Mroske et al. 2015; Mirzaa et al. 2016; Moosa et al. 2017; Gordo et al. 2018; Dobyns and Mirzaa 2019). An additional feature of multiple intestinal polyps was reported in one individual. In multiple cases, the variant was shown to occur de novo. In at least three families, the variant was found in multiple affected children despite not being detected in the parent's blood, suggesting gonadal mosaicism. The p.Glu1799Lys variant is not reported in the Genome Aggregation Database in a region of good sequence coverage, so the variant is presumed to be rare. Glu1799 is located in the FAT domain, which serves to regulate MTOR activity, and experiments in patient cells, human cell lines, and cultured rodent neurons have confirmed a gain-of-function effect of the p.Glu1799Lys variant (Grabiner et al. 2014; Baynam et al. 2015; Mirzaa et al. 2016). Based on the collective evidence, the p.Glu1799Lys variant is classified as pathogenic for Smith-Kingsmore syndrome.

Comment:

Functional studies indicate that E1799K results in an increase in mTOR pathway activity, suggesting a gain-of-function mechanism of disease (Baynam, et al., 2015); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27739187, 27159400, 25851998, 26542245, 27513193, 27753196, 28892148, 28475857, 32581362, 33077954, 23636326, 24631838, 31441589, 31064327, 30764584, 30050716, 29296277, 27860216, 28007777, 24625776, 26432419)

Germline Functional Evidence

There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Comment:

Citations for germline classification of this variant

Title	Author	Journal	Year	Link
Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus.	Jin SC	Nature medicine	2020	PMID: 33077954
Whole-genome sequencing of patients with rare diseases in a national health system.	Turro E	Nature	2020	PMID: 32581362
Megalencephaly syndromes associated with mutations of core components of the PI3K-AKT-MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR.	Dobyns WB	American journal of medical genetics. Part C, Seminars in medical genetics	2019	PMID: 31441589
mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review.	Gordo G	Clinical genetics	2018	PMID: 28892148
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.	Tatton-Brown K	American journal of human genetics	2017	PMID: 28475857
Smith-Kingsmore syndrome: A third family with the MTOR mutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism.	Moosa S	American journal of medical genetics. Part A	2017	PMID: 27753196
Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.	Farwell Hagman KD	Genetics in medicine : official journal of the American College of Medical Genetics	2017	PMID: 27513193
Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.	Mirzaa GM	JAMA neurology	2016	PMID: 27159400
Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities.	Mroske C	BMC medical genetics	2015	PMID: 26542245
A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces.	Baynam G	American journal of medical genetics. Part A	2015	PMID: 25851998
A diverse array of cancer-associated MTOR mutations are hyperactivating and can predict rapamycin sensitivity.	Grabiner BC	Cancer discovery	2014	PMID: 24631838
mTOR kinase structure, mechanism and regulation.	Yang H	Nature	2013	PMID: 23636326
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Text-mined citations for rs863225264 ...

These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 20, 2024

ClinVar Genomic variation as it relates to human health

NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys)

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for rs863225264 ...