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NM_000268.4(NF2):c.1783C>T (p.Leu595Phe)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Nov 30, 2020)
Last evaluated:
May 31, 2019
Accession:
VCV000642286.3
Variation ID:
642286
Description:
single nucleotide variant
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NM_000268.4(NF2):c.1783C>T (p.Leu595Phe)

Allele ID
649367
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q12.2
Genomic location
22: 29694797 (GRCh38) GRCh38 UCSC
22: 30090786 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.10:g.30090786C>T
NC_000022.11:g.29694797C>T
NG_009057.1:g.96242C>T
... more HGVS
Protein change
L165F, L595F
Other names
-
Canonical SPDI
NC_000022.11:29694796:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1601689027
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 29, 2018 RCV000795725.1
Uncertain significance 1 criteria provided, single submitter May 31, 2019 RCV001013140.1
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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
(Sep 29, 2018)
criteria provided, single submitter
Method: clinical testing
Neurofibromatosis, type 2
Allele origin: germline
Invitae
Accession: SCV000935196.1
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change replaces leucine with phenylalanine at codon 595 of the NF2 protein (p.Leu595Phe). The leucine residue is moderately conserved and there is a … (more)
Uncertain significance
(May 31, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV001173684.2
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.L595F variant (also known as c.1783C>T), located in coding exon 16 of the NF2 gene, results from a C to T substitution at nucleotide … (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 rs1601689027...

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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 Oct 24, 2021