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NM_000304.4(PMP22):c.47T>C (p.Leu16Pro) AND Charcot-Marie-Tooth disease, type IA

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
May 1, 1993
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:
RCV000008940.7

Allele description [Variation Report for NM_000304.4(PMP22):c.47T>C (p.Leu16Pro)]

NM_000304.4(PMP22):c.47T>C (p.Leu16Pro)

Gene:
PMP22:peripheral myelin protein 22 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p12
Genomic location:
Preferred name:
NM_000304.4(PMP22):c.47T>C (p.Leu16Pro)
HGVS:
  • NC_000017.11:g.15260681A>G
  • NG_007949.1:g.9647T>C
  • NM_000304.4:c.47T>CMANE SELECT
  • NM_001281455.2:c.47T>C
  • NM_001281456.2:c.47T>C
  • NM_001330143.2:c.47T>C
  • NM_153321.3:c.47T>C
  • NM_153322.3:c.47T>C
  • NP_000295.1:p.Leu16Pro
  • NP_001268384.1:p.Leu16Pro
  • NP_001268385.1:p.Leu16Pro
  • NP_001317072.1:p.Leu16Pro
  • NP_696996.1:p.Leu16Pro
  • NP_696997.1:p.Leu16Pro
  • LRG_263t1:c.47T>C
  • LRG_263:g.9647T>C
  • NC_000017.10:g.15163998A>G
  • NM_000304.2:c.47T>C
  • NM_000304.3:c.47T>C
  • Q01453:p.Leu16Pro
Protein change:
L16P; LEU16PRO
Links:
UniProtKB: Q01453#VAR_006360; OMIM: 601097.0002; dbSNP: rs104894617
NCBI 1000 Genomes Browser:
rs104894617
Molecular consequence:
  • NM_000304.4:c.47T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281455.2:c.47T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281456.2:c.47T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330143.2:c.47T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153321.3:c.47T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153322.3:c.47T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Charcot-Marie-Tooth disease, type IA (CMT1A)
Synonyms:
CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, WITH FOCALLY FOLDED MYELIN SHEATHS, TYPE 1A; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1A; HEREDITARY MOTOR AND SENSORY NEUROPATHY IA; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007309; MedGen: C0270911; Orphanet: 101081; OMIM: 118220

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000029150OMIM
no assertion criteria provided
Pathogenic
(May 1, 1993) 		germlineliterature only

PubMed (3)
[See all records that cite these PMIDs]

SCV000055666GeneReviews
no classification provided
not providedunknownliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providedunknownnot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A.

Valentijn LJ, Baas F, Wolterman RA, Hoogendijk JE, van den Bosch NH, Zorn I, Gabreëls-Festen AW, de Visser M, Bolhuis PA.

Nat Genet. 1992 Dec;2(4):288-91.

PubMed [citation]
PMID:
1303281

Allelic heterogeneity in hereditary motor and sensory neuropathy type Ia (Charcot-Marie-Tooth disease type 1a).

Hoogendijk JE, Janssen EA, Gabreëls-Festen AA, Hensels GW, Joosten EM, Gabreëls FJ, Zorn I, Valentijn LJ, Baas F, Ongerboer de Visser BW, et al.

Neurology. 1993 May;43(5):1010-5.

PubMed [citation]
PMID:
8492918
See all PubMed Citations (4)

Details of each submission

From OMIM, SCV000029150.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)

Description

Valentijn et al. (1992) demonstrated a mutation leading to the substitution of proline for leucine in the first putative transmembrane domain of PMP22 as the cause of Charcot-Marie-Tooth disease type 1A (CMT1A; 118220) in a Dutch kindred. A T-to-C transition at position 96 was responsible for the leu16-to-pro (L16P) substitution. The identical mutation had been identified in the 'Trembler-J' mouse, a homolog of the human disease. Thus, either duplication or point mutation in the PMP22 gene can result in CMT1A. Hoogendijk et al. (1993) had previously shown that the clinical disorder in this family was tightly linked to a probe on 17p11.2. The histopathologic abnormalities in nerve biopsies of patients from this family were unusually severe (Gabreels-Festen et al., 1992). Hoogendijk et al. (1993) commented that, according to the clinical, neurophysiologic, and morphologic criteria used by some investigators, most of the patients in this family would individually be given a diagnosis of hereditary motor and sensory neuropathy type III (HMSN3; 145900).

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

From GeneReviews, SCV000055666.2

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

Last Updated: Sep 29, 2024