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NM_000530.8(MPZ):c.670G>T (p.Asp224Tyr)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
3 (Most recent: Jul 10, 2019)
Last evaluated:
Apr 24, 2018
Accession:
VCV000041024.2
Variation ID:
41024
Description:
single nucleotide variant
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NM_000530.8(MPZ):c.670G>T (p.Asp224Tyr)

Allele ID
49446
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q23.3
Genomic location
1: 161305953 (GRCh38) GRCh38 UCSC
1: 161275743 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.161275743C>A
NC_000001.11:g.161305953C>A
NG_008055.1:g.9020G>T
... more HGVS
Protein change
D224Y
Other names
-
Canonical SPDI
NC_000001.11:161305952:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA343909
UniProtKB: P25189#VAR_054397
dbSNP: rs267607247
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 Apr 24, 2018 RCV000700463.1
Pathogenic 1 no assertion criteria provided Mar 26, 2015 RCV000033921.1
Uncertain significance 1 no assertion criteria provided - RCV000789431.1
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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
(Apr 24, 2018)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, type I
Allele origin: germline
Invitae
Accession: SCV000829220.1
Submitted: (Aug 29, 2018)
Evidence details
Publications
PubMed (6)
Comment:
This sequence change replaces aspartic acid with tyrosine at codon 224 of the MPZ protein (p.Asp224Tyr). The aspartic acid residue is highly conserved and there … (more)
Pathogenic
(Mar 26, 2015)
no assertion criteria provided
Method: literature only
Charcot-Marie-Tooth disease, type IB
Allele origin: germline
GeneReviews
Accession: SCV000057838.1
Submitted: (Mar 26, 2015)
Evidence details
Other databases
http://www.ncbi.nlm.nih.gov/book…
Uncertain significance
(-)
no assertion criteria provided
Method: literature only
Charcot-Marie-Tooth disease
Allele origin: germline
Inherited Neuropathy Consortium
Accession: SCV000928786.1
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
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
Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene? Werheid F Brain and behavior 2016 PMID: 27088055
Charcot-Marie-Tooth Neuropathy Type 1 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY Bird TD - 2015 PMID: 20301384
Analyzing histopathological features of rare charcot-marie-tooth neuropathies to unravel their pathogenesis. Benedetti S Archives of neurology 2010 PMID: 21149811
Unusual Charcot-Marie-Tooth phenotype due to a mutation within the intracellular domain of myelin protein zero. Schneider-Gold C Muscle & nerve 2010 PMID: 19882637
Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations. Miltenberger-Miltenyi G European journal of human genetics : EJHG 2009 PMID: 19259128
Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B. Fabrizi GM Neuromuscular disorders : NMD 2006 PMID: 16488608
http://www.ncbi.nlm.nih.gov/books/NBK1205/ - - - -

Text-mined citations for rs267607247...

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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 20, 2021