Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_181882.3(PRX):c.247del (p.Leu83fs)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Pathogenic(1);Uncertain significance(1)

Review status:
no assertion criteria provided
Submissions:
2 (Most recent: Jul 10, 2019)
Last evaluated:
Aug 20, 2015
Accession:
VCV000038454.2
Variation ID:
38454
Description:
1bp deletion
Help

NM_181882.3(PRX):c.247del (p.Leu83fs)

Allele ID
47013
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
19q13.2
Genomic location
19: 40398754 (GRCh38) GRCh38 UCSC
19: 40904661 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.40398755del
NC_000019.9:g.40904662del
NG_007979.1:g.19611del
... more HGVS
Protein change
L83fs
Other names
Arg82fsTer96
Canonical SPDI
NC_000019.10:40398753:GG:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA343110
dbSNP: rs281865061
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Aug 20, 2015 RCV000032005.1
Uncertain significance 1 no assertion criteria provided - RCV000789551.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PRX - - GRCh38
GRCh37
848 861

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(-)
no assertion criteria provided
Method: literature only
Dejerine-Sottas disease
Allele origin: germline
Inherited Neuropathy Consortium
Accession: SCV000928907.1
Submitted: (Jul 10, 2019)
Evidence details
Publications
PubMed (1)
Pathogenic
(Aug 20, 2015)
no assertion criteria provided
Method: literature only
Charcot-Marie-Tooth disease, type IVF
Allele origin: germline
GeneReviews
Accession: SCV000054714.1
Submitted: (Aug 20, 2015)
Evidence details
Other databases
http://www.ncbi.nlm.nih.gov/book…

Functional evidence

Help
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

Help
Title Author Journal Year Link
Charcot-Marie-Tooth Neuropathy Type 4 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY Bird TD - 2016 PMID: 20301641
Periaxin mutations cause a broad spectrum of demyelinating neuropathies. Takashima H Annals of neurology 2002 PMID: 12112076
http://www.ncbi.nlm.nih.gov/books/NBK1468/ - - - -

Text-mined citations for rs281865061...

Help
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