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NM_000268.4(NF2):c.191T>C (p.Leu64Pro)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Jun 1, 2020
Accession:
VCV001006297.1
Variation ID:
1006297
Description:
single nucleotide variant
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NM_000268.4(NF2):c.191T>C (p.Leu64Pro)

Allele ID
999388
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q12.2
Genomic location
22: 29636827 (GRCh38) GRCh38 UCSC
22: 30032816 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.10:g.30032816T>C
NC_000022.11:g.29636827T>C
NG_009057.1:g.38272T>C
... more HGVS
Protein change
L64P
Other names
-
Canonical SPDI
NC_000022.11:29636826:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs2065661430
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jun 1, 2020 RCV001303321.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NF2 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
985 1017

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 01, 2020)
criteria provided, single submitter
Method: clinical testing
Neurofibromatosis, type 2
Allele origin: germline
Invitae
Accession: SCV001492562.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (8)
Comment:
This sequence change replaces leucine with proline at codon 64 of the NF2 protein (p.Leu64Pro). The leucine residue is highly conserved and there is a … (more)

Functional evidence

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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.

Citations for this variant

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Title Author Journal Year Link
Neurofibromatosis type 2 French cohort analysis using a comprehensive NF2 molecular diagnostic strategy. Pasmant E Neuro-Chirurgie 2018 PMID: 26073919
In Silico Analysis of NF2 Gene Missense Mutations in Neurofibromatosis Type 2: From Genotype to Phenotype. Heineman TE Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2015 PMID: 25931164
In vivo functional analysis of the human NF2 tumor suppressor gene in Drosophila. Gavilan HS PloS one 2014 PMID: 24595234
NF2/merlin is a novel negative regulator of mTOR complex 1, and activation of mTORC1 is associated with meningioma and schwannoma growth. James MF Molecular and cellular biology 2009 PMID: 19451225
Neurofibromatosis 2 (NF2) tumor suppressor merlin inhibits phosphatidylinositol 3-kinase through binding to PIKE-L. Rong R Proceedings of the National Academy of Sciences of the United States of America 2004 PMID: 15598747
NF2 deficiency promotes tumorigenesis and metastasis by destabilizing adherens junctions. Lallemand D Genes & development 2003 PMID: 12695331
The neurofibromatosis type 2 gene product, merlin, reverses the F-actin cytoskeletal defects in primary human Schwannoma cells. Bashour AM Molecular and cellular biology 2002 PMID: 11809806
Increased expression of the NF2 tumor suppressor gene product, merlin, impairs cell motility, adhesionand spreading. Gutmann DH Human molecular genetics 1999 PMID: 9931334

Text-mined citations for rs2065661430...

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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 Nov 27, 2021