current
POLG:c.3708G>T (p.Gln1236His) AND Mitochondrial diseases
current
classified by single submitter
Benign
not provided
human
not provided
assert pathogenicity
curation
not provided
POLG:c.3708G>T (p.Gln1236His)
0.059547622711
0.0372
UTR-3
missense
LRG_500t1:c.*304C>A
NM_001113378.1:c.*304C>A
NM_002693.2:c.3708G>T
LRG_500:g.77801C>A
NG_008218.1:g.23033G>T
NG_011736.1:g.77801C>A
NC_000015.9:g.89859994C>A
NP_002684.1:p.Gln1236His
Q1236H
15q26.1
polymerase (DNA directed), gamma
POLG
Mitochondrial diseases
Mitochondrial diseases are a clinically heterogeneous group of disorders that arise as a result of dysfunction of the mitochondrial respiratory chain. They can be caused by mutations of nuclear or mitochondrial DNA (mtDNA). Some mitochondrial disorders only affect a single organ (e.g., the eye in Leber hereditary optic neuropathy [LHON]), but many involve multiple organ systems and often present with prominent neurologic and myopathic features. Mitochondrial disorders may present at any age. Many affected individuals display a cluster of clinical features that fall into a discrete clinical syndrome, such as the Kearns-Sayre syndrome (KSS), chronic progressive external ophthalmoplegia (CPEO), mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS), myoclonic epilepsy with ragged-red fibers (MERRF), neurogenic weakness with ataxia and retinitis pigmentosa (NARP), or Leigh syndrome (LS). However, considerable clinical variability exists and many individuals do not fit neatly into one particular category. Common clinical features of mitochondrial disease include ptosis, external ophthalmoplegia, proximal myopathy and exercise intolerance, cardiomyopathy, sensorineural deafness, optic atrophy, pigmentary retinopathy, and diabetes mellitus. Common central nervous system findings are fluctuating encephalopathy, seizures, dementia, migraine, stroke-like episodes, ataxia, and spasticity. A high incidence of mid- and late pregnancy loss is a common occurrence that often goes unrecognized.
20301403
replaced
benign
not provided
human
not provided
Assert pathogenicity
curation
not provided
NM_002693.2:c.3708G>T
POLG-Related Disorders