U.S. flag

An official website of the United States government

NM_002693.3(POLG):c.1550G>T (p.Gly517Val) AND Idiopathic camptocormia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 2012
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:
RCV000186556.9

Allele description [Variation Report for NM_002693.3(POLG):c.1550G>T (p.Gly517Val)]

NM_002693.3(POLG):c.1550G>T (p.Gly517Val)

Gene:
POLG:DNA polymerase gamma, catalytic subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_002693.3(POLG):c.1550G>T (p.Gly517Val)
Other names:
p.G517V:GGG>GTG
HGVS:
  • NC_000015.10:g.89326947C>A
  • NG_008218.2:g.12849G>T
  • NM_001126131.2:c.1550G>T
  • NM_002693.3:c.1550G>TMANE SELECT
  • NP_001119603.1:p.Gly517Val
  • NP_002684.1:p.Gly517Val
  • LRG_765t1:c.1550G>T
  • LRG_765:g.12849G>T
  • LRG_765p1:p.Gly517Val
  • NC_000015.9:g.89870178C>A
  • NM_001126131.1:c.1550G>T
  • NM_002693.2:c.1550G>T
  • P54098:p.Gly517Val
Protein change:
G517V
Links:
UniProtKB: P54098#VAR_058879; dbSNP: rs61752783
NCBI 1000 Genomes Browser:
rs61752783
Molecular consequence:
  • NM_001126131.2:c.1550G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002693.3:c.1550G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Idiopathic camptocormia
Synonyms:
Camptocormism; Camptocormia; Bent spine; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015271; MedGen: C0264162; Human Phenotype Ontology: HP:0100595

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
SCV000240098Department of Neurology, University Hospital of Strasbourg
no assertion criteria provided
Pathogenic
(Jan 1, 2012) 		unknownliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Caucasianssunknownyes21not provided2yesliterature only

Citations

PubMed

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

Horvath R, Hudson G, Ferrari G, Fütterer N, Ahola S, Lamantea E, Prokisch H, Lochmüller H, McFarland R, Ramesh V, Klopstock T, Freisinger P, Salvi F, Mayr JA, Santer R, Tesarova M, Zeman J, Udd B, Taylor RW, Turnbull D, Hanna M, Fialho D, et al.

Brain. 2006 Jul;129(Pt 7):1674-84. Epub 2006 Apr 18.

PubMed [citation]
PMID:
16621917

Details of each submission

From Department of Neurology, University Hospital of Strasbourg, SCV000240098.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasianss2not providedyesliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes2Musclenot provided2not provided1not provided

Last Updated: Jan 25, 2025