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NM_000304.4(PMP22):c.36C>A (p.His12Gln)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 10, 2019
Accession:
VCV000008434.7
Variation ID:
8434
Description:
single nucleotide variant
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NM_000304.4(PMP22):c.36C>A (p.His12Gln)

Allele ID
23473
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17p12
Genomic location
17: 15260692 (GRCh38) GRCh38 UCSC
17: 15164009 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
Q01453:p.His12Gln
LRG_263:g.9636C>A
NC_000017.10:g.15164009G>T
... more HGVS
Protein change
H12Q
Other names
-
Canonical SPDI
NC_000017.11:15260691:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA119622
UniProtKB: Q01453#VAR_006359
OMIM: 601097.0008
dbSNP: rs104894622
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Oct 10, 2019 RCV000168060.2
Pathogenic 1 criteria provided, single submitter Jan 27, 2016 RCV000622783.1
Likely pathogenic 1 criteria provided, single submitter Jan 1, 2016 RCV001195890.1
Pathogenic 1 no assertion criteria provided Jan 1, 1995 RCV000008949.5
Uncertain significance 1 no assertion criteria provided - RCV000790177.1

Clinical features observed in individuals with this variant

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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

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Oct 10, 2019)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, type I
Allele origin: germline
Invitae
Accession: SCV000218714.5
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces histidine with glutamine at codon 12 of the PMP22 protein (p.His12Gln). The histidine residue is highly conserved and there is a … (more)
Pathogenic
(Jan 27, 2016)
criteria provided, single submitter
Method: clinical testing
Inborn genetic diseases
Allele origin: germline
Ambry Genetics
Accession: SCV000741249.2
Submitted: (Oct 09, 2020)
Evidence details
Publications
PubMed (1)
Likely pathogenic
(Jan 01, 2016)
criteria provided, single submitter
Method: clinical testing
Roussy-Lévy syndrome
Allele origin: unknown
Centre for Mendelian Genomics,University Medical Centre Ljubljana
Accession: SCV001366314.2
Submitted: (Nov 24, 2020)
Evidence details
Comment:
This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PM2,PP2,PP3.
Pathogenic
(Jan 01, 1995)
no assertion criteria provided
Method: literature only
DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT
Allele origin: germline
OMIM
Accession: SCV000029159.4
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (2)
Uncertain significance
(-)
no assertion criteria provided
Method: literature only
Dejerine-Sottas disease
Allele origin: germline
Inherited Neuropathy Consortium
Accession: SCV000929568.1
Submitted: (Jul 10, 2019)
Evidence details
Publications
PubMed (1)

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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Title Author Journal Year Link
Déjérine-Sottas neuropathy is associated with a de novo PMP22 mutation. Valentijn LJ Human mutation 1995 PMID: 7728152
The hypertrophic forms of hereditary motor and sensory neuropathy. A study of hypertrophic Charcot-Marie-Tooth disease (HMSN type I) and Dejerine-Sottas disease (HMSN type III) in childhood. Ouvrier RA Brain : a journal of neurology 1987 PMID: 3467805

Text-mined citations for rs104894622...

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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