NM_000530.8(MPZ):c.411C>T (p.Gly137=) AND Charcot-Marie-Tooth disease, type I

Clinical significance:Pathogenic (Last evaluated: Aug 15, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000700482.4

Allele description [Variation Report for NM_000530.8(MPZ):c.411C>T (p.Gly137=)]

NM_000530.8(MPZ):c.411C>T (p.Gly137=)

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.411C>T (p.Gly137=)
HGVS:
  • NC_000001.11:g.161306745G>A
  • NG_008055.1:g.8228C>T
  • NM_000530.8:c.411C>TMANE SELECT
  • NM_001315491.2:c.411C>T
  • NP_000521.2:p.Gly137=
  • NP_001302420.1:p.Gly137=
  • LRG_256t1:c.411C>T
  • LRG_256:g.8228C>T
  • NC_000001.10:g.161276535G>A
  • NM_000530.6:c.411C>T
Links:
dbSNP: rs1558153994
NCBI 1000 Genomes Browser:
rs1558153994
Molecular consequence:
  • NM_000530.8:c.411C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001315491.2:c.411C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Charcot-Marie-Tooth disease, type I (CMT1)
Synonyms:
Charcot-Marie-Tooth Neuropathy Type 1; Hereditary Motor and Sensory Neuropathy 1; Charcot-Marie-Tooth, Type 1
Identifiers:
MONDO: MONDO:0019011; MedGen: C0751036

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000829239Invitaecriteria provided, single submitter
Pathogenic
(Aug 15, 2019)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Déjerine-Sottas syndrome with a silent nucleotide change of myelin protein zero gene.

Taioli F, Cabrini I, Cavallaro T, Simonati A, Testi S, Fabrizi GM.

J Peripher Nerv Syst. 2011 Mar;16(1):59-64. doi: 10.1111/j.1529-8027.2011.00319.x.

PubMed [citation]
PMID:
21504504

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000829239.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This sequence change affects codon 137 of the MPZ mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the MPZ protein. This variant is not present in population databases (ExAC no frequency). This variant has been reported in a family affected with Dejerine-Sottas syndrome (DSS)(PMID: 21504504) and has been observed to occur de novo in an individual affected with clinical features of DSS (Invitae). ClinVar contains an entry for this variant (Variation ID: 577671). Experimental studies have shown that this variant results in an aberrant MPZ transcript with an in-frame 13-amino acid deletion (PMID: 21504504). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: May 10, 2021

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