NM_018972.4(GDAP1):c.811G>A (p.Gly271Arg) AND Charcot-Marie-Tooth disease

Germline classification:: Uncertain significance (2 submissions)
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:: RCV000789643.2

Allele description [Variation Report for NM_018972.4(GDAP1):c.811G>A (p.Gly271Arg)]

NM_018972.4(GDAP1):c.811G>A (p.Gly271Arg)

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.811G>A (p.Gly271Arg)

HGVS:

NC_000008.11:g.74364101G>A
NG_008787.3:g.47972G>A
NM_001040875.4:c.607G>A
NM_001362929.2:c.484G>A
NM_001362930.2:c.637G>A
NM_001362931.2:c.694+1048G>A
NM_001362932.2:c.484G>A
NM_018972.4:c.811G>AMANE SELECT
NP_001035808.1:p.Gly203Arg
NP_001349858.1:p.Gly162Arg
NP_001349859.1:p.Gly213Arg
NP_001349861.1:p.Gly162Arg
NP_061845.2:p.Gly271Arg
LRG_244t1:c.811G>A
LRG_244:g.47972G>A
NC_000008.10:g.75276336G>A
NM_018972.2:c.811G>A

Protein change:

G162R

Links:

dbSNP: rs775622226

NCBI 1000 Genomes Browser:

rs775622226

Molecular consequence:

NM_001362931.2:c.694+1048G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001040875.4:c.607G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001362929.2:c.484G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001362930.2:c.637G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001362932.2:c.484G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_018972.4:c.811G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Charcot-Marie-Tooth disease
Synonyms:: Charcot-Marie-Tooth Neuropathy
Identifiers:: MONDO: MONDO:0015626; MedGen: C0007959; OMIM: PS118220

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000929015	Inherited Neuropathy Consortium	no assertion criteria provided	Uncertain significance	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV001336402	Molecular Genetics Laboratory, London Health Sciences Centre	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000929015

Inherited Neuropathy Consortium

no assertion criteria provided

Uncertain significance

germline

literature only

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

SCV001336402

Molecular Genetics Laboratory, London Health Sciences Centre

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance

germline

clinical testing

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	clinical testing, literature only

Citations

PubMed

Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease.

Ammar N, Nelis E, Merlini L, Barisić N, Amouri R, Ceuterick C, Martin JJ, Timmerman V, Hentati F, De Jonghe P.

Neuromuscul Disord. 2003 Nov;13(9):720-8.

PubMed [citation]

PMID:: 14561495

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

Details of each submission

From Inherited Neuropathy Consortium, SCV000929015.1

#	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

From Molecular Genetics Laboratory, London Health Sciences Centre, SCV001336402.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	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: Sep 29, 2024

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