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NM_000530.8(MPZ):c.410G>A (p.Gly137Asp)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Oct 6, 2015)
Last evaluated:
Sep 3, 2015
Accession:
VCV000217233.1
Variation ID:
217233
Description:
single nucleotide variant
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NM_000530.8(MPZ):c.410G>A (p.Gly137Asp)

Allele ID
213793
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q23.3
Genomic location
1: 161306746 (GRCh38) GRCh38 UCSC
1: 161276536 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.161276536C>T
NC_000001.11:g.161306746C>T
NM_000530.8:c.410G>A MANE Select NP_000521.2:p.Gly137Asp missense
... more HGVS
Protein change
G137D
Other names
-
Canonical SPDI
NC_000001.11:161306745:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA279120
dbSNP: rs863225025
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 Sep 3, 2015 RCV000201196.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MPZ - - GRCh38
GRCh37
469 495

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Sep 03, 2015)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, type IB
(Autosomal dominant inheritance)
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000255802.2
Submitted: (Oct 06, 2015)
Evidence details
Publications
PubMed (2)

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
Segregation analysis in families with Charcot-Marie-Tooth disease allows reclassification of putative disease causing mutations. Østern R BMC medical genetics 2014 PMID: 24444136
Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies. Østern R BMC medical genetics 2013 PMID: 24053775

Text-mined citations for rs863225025...

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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 Apr 17, 2020