NM_022041.4(GAN):c.601C>T (p.Arg201Ter) AND Giant axonal neuropathy 1

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Dec 30, 2017
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:: RCV000005336.5

Allele description [Variation Report for NM_022041.4(GAN):c.601C>T (p.Arg201Ter)]

NM_022041.4(GAN):c.601C>T (p.Arg201Ter)

Gene:

GAN:gigaxonin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q23.2

Genomic location:

Preferred name:

NM_022041.4(GAN):c.601C>T (p.Arg201Ter)

HGVS:

NC_000016.10:g.81354723C>T
NG_009007.1:g.44758C>T
NM_001377486.1:c.-39C>T
NM_022041.4:c.601C>TMANE SELECT
NP_071324.1:p.Arg201Ter
NP_071324.1:p.Arg201Ter
LRG_242t1:c.601C>T
LRG_242:g.44758C>T
LRG_242p1:p.Arg201Ter
NC_000016.9:g.81388328C>T
NM_022041.3:c.601C>T

Protein change:

R201*; ARG201TER

Links:

OMIM: 605379.0004; dbSNP: rs119485090

NCBI 1000 Genomes Browser:

rs119485090

Molecular consequence:

NM_001377486.1:c.-39C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_022041.4:c.601C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Giant axonal neuropathy 1 (GAN1)
Synonyms:: GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE
Identifiers:: MONDO: MONDO:0009749; MedGen: C1850386; Orphanet: 643; OMIM: 256850

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000025514	OMIM	no assertion criteria provided	Pathogenic (Apr 23, 2002)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000891510	Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Dec 30, 2017)	unknown	curation	PubMed (1) [See all records that cite this PMID]
SCV004174490	Inherited Neuropathy Consortium Ii, University Of Miami	no assertion criteria provided	Uncertain significance (Jan 6, 2016)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000025514

OMIM

no assertion criteria provided

Pathogenic
(Apr 23, 2002)

germline

literature only

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

SCV000891510

Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Dec 30, 2017)

unknown

curation

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

SCV004174490

Inherited Neuropathy Consortium Ii, University Of Miami

no assertion criteria provided

Uncertain significance
(Jan 6, 2016)

germline

literature only

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Giant axonal neuropathy (GAN): case report and two novel mutations in the gigaxonin gene.

Kuhlenbäumer G, Young P, Oberwittler C, Hünermund G, Schirmacher A, Domschke K, Ringelstein B, Stögbauer F.

Neurology. 2002 Apr 23;58(8):1273-6. Erratum in: Neurology 2002 May 14;58(9):1444.

PubMed [citation]

PMID:: 11971098

Details of each submission

From OMIM, SCV000025514.3

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

Description

In a young patient with giant axonal neuropathy (GAN1; 256850) diagnosed clinically by characteristic features of peripheral and central nervous system abnormalities and hair findings, Kuhlenbaumer et al. (2002) identified compound heterozygosity for mutations in the GAN gene: a 601C-T mutation resulting in an arg201-to-ter (R201X) substitution and a 1238C-T mutation in exon 8 resulting in an ile423-to-thr (I423T; 605379.0005) substitution. The patient's asymptomatic father was heterozygous for the R201X mutation, and his asymptomatic mother was heterozygous for the I423T mutation.

#	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

From Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University, SCV000891510.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (1)

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

From Inherited Neuropathy Consortium Ii, University Of Miami, SCV004174490.1

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

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

Last Updated: Dec 9, 2023

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