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NM_006158.5(NEFL):c.1027_1029del (p.Asp343del)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Nov 24, 2020)
Last evaluated:
Apr 3, 2019
Accession:
VCV000930434.2
Variation ID:
930434
Description:
3bp deletion
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NM_006158.5(NEFL):c.1027_1029del (p.Asp343del)

Allele ID
919147
Variant type
Deletion
Variant length
3 bp
Cytogenetic location
8p21.2
Genomic location
8: 24955487-24955489 (GRCh38) GRCh38 UCSC
8: 24813001-24813003 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_259:g.6129_6131del
LRG_259t1:c.1027_1029del
NC_000008.10:g.24813002_24813004del
... more HGVS
Protein change
D343del
Other names
-
Canonical SPDI
NC_000008.11:24955486:GTCG:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1803033172
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 Apr 3, 2019 RCV001196092.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NEFL No evidence available No evidence available GRCh38
GRCh37
360 437

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Apr 03, 2019)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, demyelinating, type 1f
Allele origin: unknown
Centre for Mendelian Genomics,University Medical Centre Ljubljana
Accession: SCV001366547.2
Submitted: (Nov 24, 2020)
Evidence details
Comment:
This variant was classified as: Uncertain significance. The available evidence favors the pathogenic nature of this variant, however the currently available data is insufficient to … (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 rs1803033172...

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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