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NM_000304.4(PMP22):c.215C>G (p.Ser72Trp)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Sep 1, 2021)
Last evaluated:
Mar 3, 2020
Accession:
VCV000637843.5
Variation ID:
637843
Description:
single nucleotide variant
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NM_000304.4(PMP22):c.215C>G (p.Ser72Trp)

Allele ID
625393
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17p12
Genomic location
17: 15239575 (GRCh38) GRCh38 UCSC
17: 15142892 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.15142892G>C
NC_000017.11:g.15239575G>C
NG_007949.1:g.30753C>G
... more HGVS
Protein change
S72W
Other names
-
Canonical SPDI
NC_000017.11:15239574:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs104894621
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Aug 15, 2018 RCV000802360.1
Likely pathogenic 1 criteria provided, single submitter Mar 3, 2020 RCV001580546.3
Uncertain significance 1 no assertion criteria provided - RCV000790174.1
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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
Likely pathogenic
(Aug 15, 2018)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, type I
Allele origin: germline
Invitae
Accession: SCV000942186.1
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces serine with tryptophan at codon 72 of the PMP22 protein (p.Ser72Trp). The serine residue is highly conserved and there is a … (more)
Likely pathogenic
(Mar 03, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001817890.1
Submitted: (Sep 01, 2021)
Evidence details
Comment:
Not observed in large population cohorts (Lek et al., 2016); The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); … (more)
Uncertain significance
(-)
no assertion criteria provided
Method: literature only
Dejerine-Sottas disease
Allele origin: germline
Inherited Neuropathy Consortium
Accession: SCV000929565.1
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
Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome. Tyson J Brain : a journal of neurology 1997 PMID: 9055797
Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. Roa BB Nature genetics 1993 PMID: 8275092

Text-mined citations for rs104894621...

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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