NM_000530.8(MPZ):c.444A>T (p.Glu148Asp) AND Charcot-Marie-Tooth disease, demyelinating, type 1b

Clinical significance:Uncertain significance (Last evaluated: Apr 27, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001095840.1

Allele description [Variation Report for NM_000530.8(MPZ):c.444A>T (p.Glu148Asp)]

NM_000530.8(MPZ):c.444A>T (p.Glu148Asp)

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.444A>T (p.Glu148Asp)
HGVS:
  • NC_000001.11:g.161306712T>A
  • NG_008055.1:g.8261A>T
  • NM_000530.8:c.444A>TMANE SELECT
  • NM_001315491.2:c.444A>T
  • NP_000521.2:p.Glu148Asp
  • NP_001302420.1:p.Glu148Asp
  • LRG_256t1:c.444A>T
  • LRG_256:g.8261A>T
  • NC_000001.10:g.161276502T>A
  • NM_000530.6:c.444A>T
Protein change:
E148D
Links:
dbSNP: rs1670257548
NCBI 1000 Genomes Browser:
rs1670257548
Molecular consequence:
  • NM_000530.8:c.444A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001315491.2:c.444A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Charcot-Marie-Tooth disease, demyelinating, type 1b (CMT1B)
Synonyms:
CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, WITH FOCALLY FOLDED MYELIN SHEATHS, TYPE 1B; CHARCOT-MARIE-TOOTH DISEASE, SLOW NERVE CONDUCTION TYPE, LINKED TO DUFFY; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1B; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007307; MedGen: C0270912; Orphanet: 101082; OMIM: 118200

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001252016Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Apr 27, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV001252016.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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