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_000304.4(PMP22):c.185T>G (p.Leu62Arg)

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Sep 13, 2021)
Last evaluated:
Jan 19, 2021
Accession:
VCV000188195.4
Variation ID:
188195
Description:
single nucleotide variant
Help

NM_000304.4(PMP22):c.185T>G (p.Leu62Arg)

Allele ID
186244
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17p12
Genomic location
17: 15239605 (GRCh38) GRCh38 UCSC
17: 15142922 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_263:g.30723T>G
LRG_263t1:c.185T>G
NC_000017.10:g.15142922A>C
... more HGVS
Protein change
L62R
Other names
-
Canonical SPDI
NC_000017.11:15239604:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00003
The Genome Aggregation Database (gnomAD) 0.00003
Exome Aggregation Consortium (ExAC) 0.00002
The Genome Aggregation Database (gnomAD) 0.00004
Links
ClinGen: CA334283
dbSNP: rs756046682
VarSome
Help

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 24, 2018 RCV000168113.3
Uncertain significance 1 criteria provided, single submitter Oct 31, 2018 RCV000765330.1
Uncertain significance 1 criteria provided, single submitter Dec 19, 2019 RCV001194158.1
Uncertain significance 1 criteria provided, single submitter Jan 19, 2021 RCV001657933.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PMP22 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
295 389

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 31, 2018)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, type IA
Charcot-Marie-Tooth disease and deafness
Guillain-Barre syndrome, familial
Dejerine-Sottas disease
Hereditary liability to pressure palsies
Roussy-Lévy syndrome
Allele origin: unknown
Fulgent Genetics,Fulgent Genetics
Accession: SCV000896592.1
Submitted: (Nov 14, 2018)
Evidence details
Publications
PubMed (1)
DOI: 10.1038/gim.2015.30
Uncertain significance
(Sep 24, 2018)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, type I
Allele origin: germline
Invitae
Accession: SCV000218769.5
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces leucine with arginine at codon 62 of the PMP22 protein (p.Leu62Arg). The leucine residue is highly conserved and there is a … (more)
Uncertain significance
(Dec 19, 2019)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001363467.1
Submitted: (Mar 06, 2020)
Evidence details
Publications
PubMed (1)
Comment:
Variant summary: PMP22 c.185T>G (p.Leu62Arg) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging … (more)
Uncertain significance
(Jan 19, 2021)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: unknown
Athena Diagnostics Inc
Accession: SCV001879482.1
Submitted: (Sep 13, 2021)
Evidence details
Publications
PubMed (1)

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
Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability. Antoniadi T BMC medical genetics 2015 PMID: 26392352
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25741868

Text-mined citations for rs756046682...

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