NM_002047.4(GARS1):c.815T>A (p.Leu272Gln) AND Charcot-Marie-Tooth disease type 2D

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 6, 2016
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:: RCV003447258.1

Allele description [Variation Report for NM_002047.4(GARS1):c.815T>A (p.Leu272Gln)]

NM_002047.4(GARS1):c.815T>A (p.Leu272Gln)

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.815T>A (p.Leu272Gln)

HGVS:

NC_000007.14:g.30609664T>A
NG_007942.1:g.20100T>A
NM_001316772.1:c.653T>A
NM_002047.4:c.815T>AMANE SELECT
NP_001303701.1:p.Leu218Gln
NP_002038.2:p.Leu272Gln
LRG_243t1:c.815T>A
LRG_243:g.20100T>A
NC_000007.13:g.30649280T>A
NM_002047.2:c.815T>A

Protein change:

L218Q

Links:

dbSNP: rs1554337979

NCBI 1000 Genomes Browser:

rs1554337979

Molecular consequence:

NM_001316772.1:c.653T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_002047.4:c.815T>A - 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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004174562	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

SCV004174562

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

Citations

PubMed

[A novel mutation in glycyl-tRNA synthetase caused Charcot-Marie-Tooth disease type 2D with facial and respiratory muscle involvement].

Kawakami N, Komatsu K, Yamashita H, Uemura K, Oka N, Takashima H, Takahashi R.

Rinsho Shinkeigaku. 2014;54(11):911-5. Japanese.

PubMed [citation]

PMID:: 25420567

Details of each submission

From Inherited Neuropathy Consortium Ii, University Of Miami, SCV004174562.1

#	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 17, 2023

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