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NM_000530.8(MPZ):c.337G>T (p.Val113Phe) AND Charcot-Marie-Tooth disease, type I

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 20, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001208935.15

Allele description [Variation Report for NM_000530.8(MPZ):c.337G>T (p.Val113Phe)]

NM_000530.8(MPZ):c.337G>T (p.Val113Phe)

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.337G>T (p.Val113Phe)
HGVS:
  • NC_000001.11:g.161306819C>A
  • NG_008055.1:g.8154G>T
  • NM_000530.8:c.337G>TMANE SELECT
  • NM_001315491.2:c.337G>T
  • NP_000521.2:p.Val113Phe
  • NP_001302420.1:p.Val113Phe
  • LRG_256t1:c.337G>T
  • LRG_256:g.8154G>T
  • LRG_256p1:p.Val113Phe
  • NC_000001.10:g.161276609C>A
  • NM_000530.5:c.367G>T
  • NM_000530.6:c.337G>T
  • P25189:p.Val113Phe
Protein change:
V113F
Links:
UniProtKB: P25189#VAR_031890; dbSNP: rs281865126
NCBI 1000 Genomes Browser:
rs281865126
Molecular consequence:
  • NM_000530.8:c.337G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001315491.2:c.337G>T - missense variant - [Sequence Ontology: SO:0001583]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001380350Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Aug 20, 2019) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Two amino-acid substitutions in the myelin protein zero gene of a case of Charcot-Marie-Tooth disease associated with light-near dissociation.

Bienfait HM, Baas F, Gabreëls-Festen AA, Koelman JH, Langerhorst CT, de Visser M.

Neuromuscul Disord. 2002 Mar;12(3):281-5.

PubMed [citation]
PMID:
11801400

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. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001380350.4

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has been observed on the same chromosome (in cis) as another MPZ variant in an individual affected with peripheral neuropathy with demyelinating and axonal features (PMID: 11801400). ClinVar contains an entry for this variant (Variation ID: 41020, 208147). This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with phenylalanine at codon 113 of the MPZ protein (p.Val113Phe). The valine residue is highly conserved and there is a small physicochemical difference between valine and phenylalanine.

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

Last Updated: Oct 26, 2024