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NM_018972.4(GDAP1):c.678A>T (p.Arg226Ser) AND Charcot-Marie-Tooth disease axonal type 2K

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 1, 2010
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:
RCV000004424.4

Allele description [Variation Report for NM_018972.4(GDAP1):c.678A>T (p.Arg226Ser)]

NM_018972.4(GDAP1):c.678A>T (p.Arg226Ser)

Gene:
GDAP1:ganglioside induced differentiation associated protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q21.11
Genomic location:
Preferred name:
NM_018972.4(GDAP1):c.678A>T (p.Arg226Ser)
HGVS:
  • NC_000008.11:g.74363037A>T
  • NG_008787.3:g.46908A>T
  • NM_001040875.4:c.474A>T
  • NM_001362929.2:c.351A>T
  • NM_001362930.2:c.504A>T
  • NM_001362931.2:c.678A>T
  • NM_001362932.2:c.351A>T
  • NM_018972.2:c.678A>T
  • NM_018972.4:c.678A>TMANE SELECT
  • NP_001035808.1:p.Arg158Ser
  • NP_001349858.1:p.Arg117Ser
  • NP_001349859.1:p.Arg168Ser
  • NP_001349860.1:p.Arg226Ser
  • NP_001349861.1:p.Arg117Ser
  • NP_061845.2:p.Arg226Ser
  • LRG_244t1:c.678A>T
  • LRG_244:g.46908A>T
  • NC_000008.10:g.75275272A>T
Protein change:
R117S; ARG226SER
Links:
OMIM: 606598.0015; dbSNP: rs267606842
NCBI 1000 Genomes Browser:
rs267606842
Molecular consequence:
  • NM_001040875.4:c.474A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001362929.2:c.351A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001362930.2:c.504A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001362931.2:c.678A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001362932.2:c.351A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_018972.4:c.678A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Charcot-Marie-Tooth disease axonal type 2K
Synonyms:
CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2K; Charcot-Marie-Tooth disease type 2K; Charcot-Marie-Tooth disease, axonal, autosomal recessive, Type 2K
Identifiers:
MONDO: MONDO:0011916; MedGen: C1842983; Orphanet: 99944; OMIM: 607831

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000024597OMIM
no assertion criteria provided
Pathogenic
(Oct 1, 2010) 		germlineliterature 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

Citations

PubMed

The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K.

Crimella C, Tonelli A, Airoldi G, Baschirotto C, D'Angelo MG, Bonato S, Losito L, Trabacca A, Bresolin N, Bassi MT.

J Med Genet. 2010 Oct;47(10):712-6. doi: 10.1136/jmg.2010.077909. Epub 2010 Aug 3.

PubMed [citation]
PMID:
20685671

Details of each submission

From OMIM, SCV000024597.3

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

Description

In an Italian mother and daughter child with autosomal dominant Charcot-Marie-Tooth disease type 2K (CMT2K; see 607831), Crimella et al. (2010) identified a heterozygous 678A-T transversion in exon 5 of the GDAP1 gene, resulting in an arg226-to-ser (R226S) substitution in a highly conserved region in the GST domain. The 25-year-old daughter presented with lower limb involvement at age 8 years and retained independent ambulation. The 49-year-old mother had EMG findings of axonal CMT at age 35 years but showed no clinical signs of the disorder. She developed mild lower limb involvement in her late forties. The mutation was not found in 500 controls. The family illustrated significant intrafamilial variability.

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

Last Updated: Dec 17, 2023