NM_002693.2(POLG):c.2601T>C (p.Pro867=) AND multiple conditions

Clinical significance:not provided

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000709782.1

Allele description [Variation Report for NM_002693.2(POLG):c.2601T>C (p.Pro867=)]

NM_002693.2(POLG):c.2601T>C (p.Pro867=)

Gene:
POLG:DNA polymerase gamma, catalytic subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_002693.2(POLG):c.2601T>C (p.Pro867=)
Other names:
p.P867P:CCT>CCC
HGVS:
  • NC_000015.10:g.89321258A>G
  • NG_008218.2:g.18538T>C
  • NM_002693.2:c.2601T>C
  • NP_002684.1:p.Pro867=
  • LRG_765t1:c.2601T>C
  • LRG_765:g.18538T>C
  • LRG_765p1:p.Pro867=
  • NC_000015.9:g.89864489A>G
Links:
dbSNP: rs201749977
NCBI 1000 Genomes Browser:
rs201749977
Molecular consequence:
  • NM_002693.2:c.2601T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Progressive sclerosing poliodystrophy (MTDPS4A)
Synonyms:
Alpers Syndrome; Mitochondrial DNA depletion syndrome 4A (Alpers type); Alpers-Huttenlocher Syndrome
Identifiers:
MedGen: C0205710; Orphanet: 726; OMIM: 203700
Name:
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1)
Synonyms:
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1; Autosomal Dominant Progressive External Ophthalmoplegia
Identifiers:
MedGen: C1834846; OMIM: 157640
Name:
Cerebellar ataxia infantile with progressive external ophthalmoplegia (PEOB1)
Synonyms:
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1; PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1; Autosomal Recessive Progressive External Ophthalmoplegia
Identifiers:
MedGen: C4225153; Orphanet: 254886; OMIM: 258450
Name:
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO)
Synonyms:
SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE; EPILEPSY, PROGRESSIVE MYOCLONIC, 5; Ataxia neuropathy spectrum disorder
Identifiers:
MedGen: C1843851; Orphanet: 254818; OMIM: 607459
Name:
Mitochondrial DNA depletion syndrome 4B, MNGIE type (MTDPS4B)
Synonyms:
MNGIE, POLG-RELATED; Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG-Related
Identifiers:
MedGen: C3150914; Orphanet: 298; OMIM: 613662

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000840105GenomeConnect, ClinGenno assertion providednot providedunknownphenotyping only

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV000840105.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2019

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