U.S. flag

An official website of the United States government

NM_018972.4(GDAP1):c.579+1G>A AND Charcot-Marie-Tooth disease axonal type 2K

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Mar 22, 2022
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:
RCV002288831.4

Allele description [Variation Report for NM_018972.4(GDAP1):c.579+1G>A]

NM_018972.4(GDAP1):c.579+1G>A

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.579+1G>A
HGVS:
  • NC_000008.11:g.74361979G>A
  • NG_008787.3:g.45850G>A
  • NM_001040875.4:c.375+1G>A
  • NM_001362929.2:c.252+1G>A
  • NM_001362930.2:c.405+1G>A
  • NM_001362931.2:c.579+1G>A
  • NM_001362932.2:c.252+1G>A
  • NM_018972.4:c.579+1G>AMANE SELECT
  • LRG_244t1:c.579+1G>A
  • LRG_244:g.45850G>A
  • NC_000008.10:g.75274214G>A
  • NM_018972.2:c.579+1G>A
Nucleotide change:
IVS4DS, G-A, +1
Links:
OMIM: 606598.0008; dbSNP: rs864622501
NCBI 1000 Genomes Browser:
rs864622501
Molecular consequence:
  • NM_001040875.4:c.375+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001362929.2:c.252+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001362930.2:c.405+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001362931.2:c.579+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001362932.2:c.252+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_018972.4:c.579+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
Observations:
1

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002578966MGZ Medical Genetics Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Mar 22, 2022) 		germlineclinical testing

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

SCV004174649Inherited Neuropathy Consortium Ii, University Of Miami
no assertion criteria provided
Uncertain significance
(Jan 6, 2016) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing, literature only

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

Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy.

Senderek J, Bergmann C, Ramaekers VT, Nelis E, Bernert G, Makowski A, Züchner S, De Jonghe P, Rudnik-Schöneborn S, Zerres K, Schröder JM.

Brain. 2003 Mar;126(Pt 3):642-9.

PubMed [citation]
PMID:
12566285

Details of each submission

From MGZ Medical Genetics Center, SCV002578966.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Inherited Neuropathy Consortium Ii, University Of Miami, SCV004174649.1

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

Last Updated: Apr 13, 2025