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NM_002693.3(POLG):c.3131T>C (p.Val1044Ala) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 3, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000515366.11

Allele description [Variation Report for NM_002693.3(POLG):c.3131T>C (p.Val1044Ala)]

NM_002693.3(POLG):c.3131T>C (p.Val1044Ala)

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.3131T>C (p.Val1044Ala)
HGVS:
  • NC_000015.10:g.89319073A>G
  • NG_008218.2:g.20723T>C
  • NG_011736.1:g.80111A>G
  • NM_001126131.2:c.3131T>C
  • NM_002693.3:c.3131T>CMANE SELECT
  • NP_001119603.1:p.Val1044Ala
  • NP_002684.1:p.Val1044Ala
  • NP_002684.1:p.Val1044Ala
  • LRG_765t1:c.3131T>C
  • LRG_500:g.80111A>G
  • LRG_765:g.20723T>C
  • LRG_765p1:p.Val1044Ala
  • NC_000015.9:g.89862304A>G
  • NM_001126131.1:c.3131T>C
  • NM_002693.2:c.3131T>C
  • NM_002693.3:c.3131T>C
  • p.V1044A
Protein change:
V1044A
Links:
dbSNP: rs150233690
NCBI 1000 Genomes Browser:
rs150233690
Molecular consequence:
  • NM_001126131.2:c.3131T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002693.3:c.3131T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Progressive sclerosing poliodystrophy (MTDPS4A)
Synonyms:
Alpers disease; Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis; Alpers progressive infantile poliodystrophy; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008758; MedGen: C0205710; Orphanet: 726; OMIM: 203700
Name:
Mitochondrial DNA depletion syndrome 1
Synonyms:
POLIP SYNDROME; POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION; MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, TYMP-RELATED; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011283; MedGen: C4551995; Orphanet: 298; OMIM: 603041
Name:
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 (PEOA1)
Synonyms:
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1
Identifiers:
MONDO: MONDO:0024528; MedGen: C1834846; OMIM: 157640
Name:
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 (PEOB1)
Synonyms:
Cerebellar ataxia infantile with progressive external ophthalmoplegia; Progressive external ophthalmoplegia, autosomal recessive 1
Identifiers:
MONDO: MONDO:0009783; MedGen: C4225153; Orphanet: 254886; OMIM: 258450
Name:
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO)
Synonyms:
SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome; Epilepsy, progressive myoclonic, type 5
Identifiers:
MONDO: MONDO:0011835; MedGen: C1843851; OMIM: 607459
Name:
Mitochondrial DNA depletion syndrome 4b
Synonyms:
MNGIE, POLG-RELATED; Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG-Related; Mitochondrial DNA depletion syndrome 4B, MNGIE type
Identifiers:
MONDO: MONDO:0013350; MedGen: C3150914; Orphanet: 298; OMIM: 613662

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000611503Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(May 3, 2022) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot 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 Fulgent Genetics, Fulgent Genetics, SCV000611503.2

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

Last Updated: Nov 24, 2024