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NM_000304.4(PMP22):c.362A>G (p.His121Arg)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jan 30, 2019)
Last evaluated:
Feb 16, 2018
Accession:
VCV000586345.2
Variation ID:
586345
Description:
single nucleotide variant
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NM_000304.4(PMP22):c.362A>G (p.His121Arg)

Allele ID
577607
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17p12
Genomic location
17: 15231038 (GRCh38) GRCh38 UCSC
17: 15134355 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_263:g.39290A>G
LRG_263t1:c.362A>G
NC_000017.10:g.15134355T>C
... more HGVS
Protein change
H121R
Other names
-
Canonical SPDI
NC_000017.11:15231037:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1567698985
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 Feb 16, 2018 RCV000712772.1
not provided 1 no assertion provided - RCV000844937.1

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
Uncertain significance
(Feb 16, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000843298.1
Submitted: (Aug 31, 2018)
Evidence details
not provided
(-)
no assertion provided
Method: phenotyping only
Guillain-Barre syndrome, familial
Charcot-Marie-Tooth disease, type IA
Charcot-Marie-Tooth disease and deafness
Dejerine-Sottas disease
Hereditary liability to pressure palsies
Roussy-Lévy syndrome
Allele origin: unknown
GenomeConnect, ClinGen
Accession: SCV000986755.1
Submitted: (Jan 30, 2019)
Evidence details
Comment:
Variant interpretted as Uncertain significance and reported on 04/12/2017 by GTR ID MNG Laboratories. GenomeConnect assertions are reported exactly as they appear on the patient-provided … (more)

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1567698985...

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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