NM_002693.3(POLG):c.1491G>C (p.Gln497His) AND Spinocerebellar ataxia with epilepsy

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 12, 2005
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:: RCV000014464.33

Allele description [Variation Report for NM_002693.3(POLG):c.1491G>C (p.Gln497His)]

NM_002693.3(POLG):c.1491G>C (p.Gln497His)

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.1491G>C (p.Gln497His)

Other names:

p.Q497H:CAG>CAC

HGVS:

NC_000015.10:g.89327006C>G
NG_008218.2:g.12790G>C
NM_001126131.2:c.1491G>C
NM_002693.3:c.1491G>CMANE SELECT
NP_001119603.1:p.Gln497His
NP_002684.1:p.Gln497His
NP_002684.1:p.Gln497His
LRG_765t1:c.1491G>C
LRG_765:g.12790G>C
LRG_765p1:p.Gln497His
NC_000015.9:g.89870237C>G
NM_001126131.1:c.1491G>C
NM_002693.2:c.1491G>C
P54098:p.Gln497His

Protein change:

Q497H; GLN497HIS

Links:

UniProtKB: P54098#VAR_023669; OMIM: 174763.0016; dbSNP: rs121918052

NCBI 1000 Genomes Browser:

rs121918052

Molecular consequence:

NM_001126131.2:c.1491G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_002693.3:c.1491G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Spinocerebellar ataxia with epilepsy
Identifiers:: MONDO: MONDO:0016809; MedGen: C1843852

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000034715	OMIM	no assertion criteria provided	Pathogenic (Apr 12, 2005)	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

SCV000034715

OMIM

no assertion criteria provided

Pathogenic
(Apr 12, 2005)

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

Citations

PubMed

Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.

Winterthun S, Ferrari G, He L, Taylor RW, Zeviani M, Turnbull DM, Engelsen BA, Moen G, Bindoff LA.

Neurology. 2005 Apr 12;64(7):1204-8.

PubMed [citation]

PMID:: 15824347

Details of each submission

From OMIM, SCV000034715.2

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

Description

In affected members from 2 families with a form of SANDO characterized by early onset of migraine headaches and/or seizures, and the later development of myoclonus (see SCAE; 607459), Winterthun et al. (2005) identified a homozygous 1491G-C transversion in the POLG gene, resulting in a gln497-to-his (Q497H) substitution. Both patients were also homozygous for another disease-causing POLG mutation (W748S; 174763.0013).

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

Last Updated: Oct 8, 2024

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