NM_002693.2(POLG):c.3098C>T (p.Ala1033Val) AND multiple conditions

Clinical significance:Uncertain significance (Last evaluated: Jun 19, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000660574.1

Allele description [Variation Report for NM_002693.2(POLG):c.3098C>T (p.Ala1033Val)]

NM_002693.2(POLG):c.3098C>T (p.Ala1033Val)

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.3098C>T (p.Ala1033Val)
Other names:
p.A1033V:GCA>GTA
HGVS:
  • NC_000015.10:g.89319234G>A
  • NG_008218.2:g.20562C>T
  • NM_002693.2:c.3098C>T
  • NP_002684.1:p.Ala1033Val
  • LRG_765t1:c.3098C>T
  • LRG_765:g.20562C>T
  • LRG_765p1:p.Ala1033Val
  • NC_000015.9:g.89862465G>A
Protein change:
A1033V
Links:
dbSNP: rs551708243
NCBI 1000 Genomes Browser:
rs551708243
Molecular consequence:
  • NM_002693.2:c.3098C>T - missense variant - [Sequence Ontology: SO:0001583]

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:
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
SCV000782686Mayo Clinic Genetic Testing Laboratories,Mayo Cliniccriteria provided, single submitter
Uncertain significance
(Jun 19, 2017)
maternalclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Mayo Clinic Genetic Testing Laboratories,Mayo Clinic, SCV000782686.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2019

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