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NM_000304.4(PMP22):c.447C>A (p.Ser149Arg)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jul 10, 2019)
Last evaluated:
Oct 18, 2016
Accession:
VCV000234605.3
Variation ID:
234605
Description:
single nucleotide variant
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NM_000304.4(PMP22):c.447C>A (p.Ser149Arg)

Allele ID
231988
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17p12
Genomic location
17: 15230953 (GRCh38) GRCh38 UCSC
17: 15134270 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
Q01453:p.Ser149Arg
NC_000017.10:g.15134270G>T
NC_000017.11:g.15230953G>T
... more HGVS
Protein change
S149R
Other names
-
Canonical SPDI
NC_000017.11:15230952:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10577555
UniProtKB: Q01453#VAR_029970
dbSNP: rs775019409
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 18, 2016 RCV000213954.2
Uncertain significance 1 no assertion criteria provided - RCV000790160.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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 18, 2016)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000279563.8
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The S149R pathogenic variant in the PMP22 gene has been reported previously as a de novo pathogenic variant in an individual with a clinical diagnosis … (more)
Uncertain significance
(-)
no assertion criteria provided
Method: literature only
Dejerine-Sottas disease
Allele origin: germline
Inherited Neuropathy Consortium
Accession: SCV000929551.1
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 disease with a novel de novo dominant mutation, Ser 149 Arg, of the peripheral myelin protein 22. Ohnishi A Acta neuropathologica 2000 PMID: 10663978

Text-mined citations for rs775019409...

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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