NM_002047.4(GARS1):c.1415A>G (p.His472Arg) AND Charcot-Marie-Tooth disease type 2D

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Apr 20, 2019
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:: RCV003332179.3

Allele description [Variation Report for NM_002047.4(GARS1):c.1415A>G (p.His472Arg)]

NM_002047.4(GARS1):c.1415A>G (p.His472Arg)

Gene:

GARS1:glycyl-tRNA synthetase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p14.3

Genomic location:

Preferred name:

NM_002047.4(GARS1):c.1415A>G (p.His472Arg)

HGVS:

NC_000007.14:g.30621448A>G
NG_007942.1:g.31884A>G
NM_001316772.1:c.1253A>G
NM_002047.4:c.1415A>GMANE SELECT
NP_001303701.1:p.His418Arg
NP_002038.2:p.His472Arg
LRG_243t1:c.1415A>G
LRG_243:g.31884A>G
NC_000007.13:g.30661064A>G
NM_002047.1:c.1253A>G
NM_002047.2:c.1415A>G
NM_002047.3:c.1415A>G
p.His418Arg

Protein change:

H418R; HIS472ARG

Links:

OMIM: 600287.0013; dbSNP: rs1060502838

NCBI 1000 Genomes Browser:

rs1060502838

Molecular consequence:

NM_001316772.1:c.1253A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_002047.4:c.1415A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Charcot-Marie-Tooth disease type 2D (CMT2D)
Synonyms:: CMT 2D; Charcot-Marie-Tooth disease, axonal, Type 2D; Charcot-Marie-Tooth disease, neuronal, Type 2D; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0011091; MedGen: C1832274; Orphanet: 99938; OMIM: 601472

Recent activity

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putative mitochondrial carnitine carrier protein [Eutypa lata UCREL1]
putative mitochondrial carnitine carrier protein [Eutypa lata UCREL1]
gi|471572553|gb|EMR70968.1||gnl|WGS |UCREL1_1992

Protein
Selenomonas dianae strain ATCC 43527 chromosome, complete genome
Selenomonas dianae strain ATCC 43527 chromosome, complete genome
gi|2557568019|gb|CP128650.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001760936	GeneReviews	no classification provided	not provided	germline	literature only	PubMed (5) [See all records that cite these PMIDs] 16014653, 25168514, 31827005, 31832804, 20301420
SCV004174564	Inherited Neuropathy Consortium Ii, University Of Miami	no assertion criteria provided	Uncertain significance (Apr 20, 2019)	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

SCV001760936

GeneReviews

no classification provided

not provided

germline

literature only

PubMed (5)
[See all records that cite these PMIDs]

SCV004174564

Inherited Neuropathy Consortium Ii, University Of Miami

no assertion criteria provided

Uncertain significance
(Apr 20, 2019)

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	unknown	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations.

Griffin LB, Sakaguchi R, McGuigan D, Gonzalez MA, Searby C, Züchner S, Hou YM, Antonellis A.

Hum Mutat. 2014 Nov;35(11):1363-71. doi: 10.1002/humu.22681.

PubMed [citation]

PMID:: 25168514
PMCID:: PMC4213347

Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease.

Cortese A, Wilcox JE, Polke JM, Poh R, Skorupinska M, Rossor AM, Laura M, Tomaselli PJ, Houlden H, Shy ME, Reilly MM.

Neurology. 2020 Jan 7;94(1):e51-e61. doi: 10.1212/WNL.0000000000008672. Epub 2019 Dec 11. Erratum in: Neurology. 2022 Mar 1;98(9):384. doi: 10.1212/WNL.0000000000010635. Neurology. 2022 Jul 5;99(1):42. doi: 10.1212/WNL.0000000000200334.

PubMed [citation]

PMID:: 31827005
PMCID:: PMC7011687

See all PubMed Citations (5)

Details of each submission

From GeneReviews, SCV001760936.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (5)

Description

GARS1-HMSN (exclusively dSMA-V) [Sivakumar et al 2005, Griffin et al 2014, Cortese et al 2020, Lin et al 2020]

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

From Inherited Neuropathy Consortium Ii, University Of Miami, SCV004174564.1

#	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: Oct 13, 2024

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