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NM_000304.4(PMP22):c.478G>A (p.Glu160Lys)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 8, 2020
Accession:
VCV000462781.4
Variation ID:
462781
Description:
single nucleotide variant
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NM_000304.4(PMP22):c.478G>A (p.Glu160Lys)

Allele ID
467286
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17p12
Genomic location
17: 15230922 (GRCh38) GRCh38 UCSC
17: 15134239 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.15134239C>T
LRG_263:g.39406G>A
NC_000017.11:g.15230922C>T
... more HGVS
Protein change
E160K
Other names
-
Canonical SPDI
NC_000017.11:15230921:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00004
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA288864487
dbSNP: rs1022583382
VarSome
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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 8, 2020 RCV000537684.5
Uncertain significance 1 criteria provided, single submitter Oct 31, 2018 RCV000764105.1
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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
Uncertain significance
(Sep 08, 2020)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, type I
Allele origin: germline
Invitae
Accession: SCV000636224.5
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces glutamic acid with lysine at codon 160 of the PMP22 protein (p.Glu160Lys). The glutamic acid residue is highly conserved and there … (more)
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: SCV000895073.1
Submitted: (Nov 14, 2018)
Evidence details
Publications
PubMed (1)
DOI: 10.1038/gim.2015.30

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
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
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 rs1022583382...

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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