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NM_000268.4(NF2):c.1022G>T (p.Arg341Leu)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Mar 10, 2020
Accession:
VCV000485993.5
Variation ID:
485993
Description:
single nucleotide variant
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NM_000268.4(NF2):c.1022G>T (p.Arg341Leu)

Allele ID
480166
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q12.2
Genomic location
22: 29671848 (GRCh38) GRCh38 UCSC
22: 30067837 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.11:g.29671848G>T
NG_009057.1:g.73293G>T
NM_000268.4:c.1022G>T MANE Select NP_000259.1:p.Arg341Leu missense
... more HGVS
Protein change
R341L, R299L, R300L, R258L
Other names
-
Canonical SPDI
NC_000022.11:29671847:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA036649
dbSNP: rs754087071
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 Sep 5, 2017 RCV000562485.1
Uncertain significance 1 criteria provided, single submitter Mar 10, 2020 RCV001050077.2
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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
(Sep 05, 2017)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000674159.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.R341L variant (also known as c.1022G>T), located in coding exon 11 of the NF2 gene, results from a G to T substitution at nucleotide … (more)
Uncertain significance
(Mar 10, 2020)
criteria provided, single submitter
Method: clinical testing
Neurofibromatosis, type 2
Allele origin: germline
Invitae
Accession: SCV001214165.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces arginine with leucine at codon 341 of the NF2 protein (p.Arg341Leu). The arginine 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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs754087071...

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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 Dec 04, 2021