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NM_000304.4(PMP22):c.298G>A (p.Gly100Arg)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Nov 5, 2021)
Last evaluated:
Oct 2, 2021
Accession:
VCV000637820.2
Variation ID:
637820
Description:
single nucleotide variant
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NM_000304.4(PMP22):c.298G>A (p.Gly100Arg)

Allele ID
625382
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17p12
Genomic location
17: 15239492 (GRCh38) GRCh38 UCSC
17: 15142809 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.15142809C>T
NC_000017.11:g.15239492C>T
NG_007949.1:g.30836G>A
... more HGVS
Protein change
G100R
Other names
-
Canonical SPDI
NC_000017.11:15239491:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1597607651
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, single submitter Oct 2, 2021 RCV000790144.2
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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 02, 2021)
criteria provided, single submitter
Method: clinical testing
Dejerine-Sottas disease
Allele origin: germline
3billion
Accession: SCV002012346.1
Submitted: (Nov 05, 2021)
Evidence details
Publications
PubMed (1)
Comment:
The missense variant is located in a mutational hot spot and/or well-established functional domain in which established pathogenic variants have been reported (PM1). It is … (more)
Uncertain significance
(-)
no assertion criteria provided
Method: literature only
Dejerine-Sottas disease
Allele origin: germline
Inherited Neuropathy Consortium
Accession: SCV000929535.1
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
Dejerine-Sottas neuropathy and PMP22 point mutations: a new base pair substitution and a possible "hot spot" on Ser72. Marques W Jr Annals of neurology 1998 PMID: 9585367
Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies. Bort S Human genetics 1997 PMID: 9187667

Text-mined citations for rs1597607651...

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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