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NM_000530.8(MPZ):c.173T>A (p.Val58Asp) AND Charcot-Marie-Tooth disease

Germline classification:
Uncertain significance (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000790089.1

Allele description [Variation Report for NM_000530.8(MPZ):c.173T>A (p.Val58Asp)]

NM_000530.8(MPZ):c.173T>A (p.Val58Asp)

Gene:
MPZ:myelin protein zero [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q23.3
Genomic location:
Preferred name:
NM_000530.8(MPZ):c.173T>A (p.Val58Asp)
HGVS:
  • NC_000001.11:g.161307319A>T
  • NG_008055.1:g.7654T>A
  • NM_000530.8:c.173T>AMANE SELECT
  • NM_001315491.2:c.173T>A
  • NP_000521.2:p.Val58Asp
  • NP_001302420.1:p.Val58Asp
  • LRG_256t1:c.173T>A
  • LRG_256:g.7654T>A
  • NC_000001.10:g.161277109A>T
  • NM_000530.6:c.173T>A
Protein change:
V58D
Links:
dbSNP: rs1571820049
NCBI 1000 Genomes Browser:
rs1571820049
Molecular consequence:
  • NM_000530.8:c.173T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001315491.2:c.173T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Charcot-Marie-Tooth disease
Synonyms:
Charcot-Marie-Tooth Neuropathy
Identifiers:
MONDO: MONDO:0015626; MedGen: C0007959; OMIM: PS118220

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000929479Inherited Neuropathy Consortium
no assertion criteria provided
Uncertain significancegermlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Myelin protein zero gene mutations in Taiwanese patients with Charcot-Marie-Tooth disease type 1.

Lee YC, Soong BW, Lin KP, Lee HY, Wu ZA, Kao KP.

J Neurol Sci. 2004 Apr 15;219(1-2):95-100.

PubMed [citation]
PMID:
15050444

Details of each submission

From Inherited Neuropathy Consortium, SCV000929479.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024