U.S. flag

An official website of the United States government

NM_002693.3(POLG):c.2573C>T (p.Thr858Ile) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 2, 2021
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:
RCV001536256.4

Allele description [Variation Report for NM_002693.3(POLG):c.2573C>T (p.Thr858Ile)]

NM_002693.3(POLG):c.2573C>T (p.Thr858Ile)

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.2573C>T (p.Thr858Ile)
HGVS:
  • NC_000015.10:g.89321761G>A
  • NG_008218.2:g.18035C>T
  • NM_001126131.2:c.2573C>T
  • NM_002693.3:c.2573C>TMANE SELECT
  • NP_001119603.1:p.Thr858Ile
  • NP_002684.1:p.Thr858Ile
  • NP_002684.1:p.Thr858Ile
  • LRG_765t1:c.2573C>T
  • LRG_765:g.18035C>T
  • LRG_765p1:p.Thr858Ile
  • NC_000015.9:g.89864992G>A
  • NM_002693.2:c.2573C>T
Protein change:
T858I
Links:
dbSNP: rs759128787
NCBI 1000 Genomes Browser:
rs759128787
Molecular consequence:
  • NM_001126131.2:c.2573C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002693.3:c.2573C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001752987GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Dec 2, 2021) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001752987.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Reported previously in a patient with progressive external ophthalmoplegia; segregation information unavailable (Rodriguez-Lopez et al., 2020); Reported previously as a maternally inherited variant of uncertain significance in an individual with developmental delay, hypotonia, and failure to thrive with complex IV and V abnormalities noted on muscle biopsy; clinical information on the mother not provided (Nogueira et al., 2019); Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 32161153, 30831263)

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

Last Updated: Sep 29, 2024