NM_001005361.3(DNM2):c.1072G>A (p.Gly358Arg) AND Autosomal dominant Charcot-Marie-Tooth disease type 2M

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 1, 2009
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:: RCV000007710.4

Allele description [Variation Report for NM_001005361.3(DNM2):c.1072G>A (p.Gly358Arg)]

NM_001005361.3(DNM2):c.1072G>A (p.Gly358Arg)

Gene:

DNM2:dynamin 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

Preferred name:

NM_001005361.3(DNM2):c.1072G>A (p.Gly358Arg)

HGVS:

NC_000019.10:g.10793799G>A
NG_008792.1:g.80721G>A
NM_001005360.3:c.1072G>A
NM_001005361.3:c.1072G>AMANE SELECT
NM_001005362.3:c.1072G>A
NM_001190716.2:c.1072G>A
NM_004945.4:c.1072G>A
NP_001005360.1:p.Gly358Arg
NP_001005360.1:p.Gly358Arg
NP_001005361.1:p.Gly358Arg
NP_001005362.1:p.Gly358Arg
NP_001177645.1:p.Gly358Arg
NP_004936.2:p.Gly358Arg
LRG_238t1:c.1072G>A
LRG_238:g.80721G>A
LRG_238p1:p.Gly358Arg
NC_000019.9:g.10904475G>A
NM_001005360.2:c.1072G>A
NM_001190716.1:c.1072G>A
P50570:p.Gly358Arg

Protein change:

G358R; GLY358ARG

Links:

UniProtKB: P50570#VAR_068425; OMIM: 602378.0012; dbSNP: rs267606772

NCBI 1000 Genomes Browser:

rs267606772

Molecular consequence:

NM_001005360.3:c.1072G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001005361.3:c.1072G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001005362.3:c.1072G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001190716.2:c.1072G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_004945.4:c.1072G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Autosomal dominant Charcot-Marie-Tooth disease type 2M (CMT2M)
Synonyms:: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2M; CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2M; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0016431; MedGen: C4304672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000027911	OMIM	no assertion criteria provided	Pathogenic (Jul 1, 2009)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 18560793, 19502294

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000027911

OMIM

no assertion criteria provided

Pathogenic
(Jul 1, 2009)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Magnetic resonance imaging findings of leg musculature in Charcot-Marie-Tooth disease type 2 due to dynamin 2 mutation.

Gallardo E, Claeys KG, Nelis E, García A, Canga A, Combarros O, Timmerman V, De Jonghe P, Berciano J.

J Neurol. 2008 Jul;255(7):986-92. doi: 10.1007/s00415-008-0808-8. Epub 2008 Jun 17.

PubMed [citation]

PMID:: 18560793

Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy.

Claeys KG, Züchner S, Kennerson M, Berciano J, Garcia A, Verhoeven K, Storey E, Merory JR, Bienfait HM, Lammens M, Nelis E, Baets J, De Vriendt E, Berneman ZN, De Veuster I, Vance JM, Nicholson G, Timmerman V, De Jonghe P.

Brain. 2009 Jul;132(Pt 7):1741-52. doi: 10.1093/brain/awp115. Epub 2009 Jun 5.

PubMed [citation]

PMID:: 19502294
PMCID:: PMC2724916

Details of each submission

From OMIM, SCV000027911.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In a mother and her 2 adult daughters with autosomal dominant axonal Charcot-Marie-Tooth disease type 2M (CMT2M; see 606482), Gallardo et al. (2008) identified a heterozygous 1072G-A transition in exon 7 of the DNM2 gene, resulting in a gly358-to-arg (G358R) substitution in a highly conserved region in the middle domain. The patients were ages 55, 32, and 23, and motor nerve conduction velocities were 33, 46, and 50 m/s, respectively. All had progressive gait unsteadiness and foot deformities, including pes cavus and toe clawing, in the first decade of life. All had distal muscle weakness and atrophy of the lower limbs, and the mother also had hand weakness and atrophy. Ankle reflexes were absent in all 3, and all had hypoesthesia of the lower limbs. MRI studies showed fatty infiltration of the calf muscles, particularly in the anterior compartment. The fatty infiltration increased distally and was massive in the foot musculature. Muscle edema was also present in affected muscles. In a follow-up of the family reported by Gallardo et al. (2008), Claeys et al. (2009) stated that the phenotype was consistent with axonal CMT2.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 20, 2024

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