NM_002693.3(POLG):c.1795A>C (p.Thr599Pro) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 17, 2017
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:
RCV000486915.1

Allele description [Variation Report for NM_002693.3(POLG):c.1795A>C (p.Thr599Pro)]

NM_002693.3(POLG):c.1795A>C (p.Thr599Pro)

Genes:
POLG:DNA polymerase gamma, catalytic subunit [Gene - OMIM - HGNC]
POLGARF:POLG alternative reading frame [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_002693.3(POLG):c.1795A>C (p.Thr599Pro)
HGVS:
  • NC_000015.10:g.89325604T>G
  • NG_008218.2:g.14192A>C
  • NM_001126131.2:c.1795A>C
  • NM_002693.3:c.1795A>CMANE SELECT
  • NP_001119603.1:p.Thr599Pro
  • NP_002684.1:p.Thr599Pro
  • NP_002684.1:p.Thr599Pro
  • LRG_765t1:c.1795A>C
  • LRG_765:g.14192A>C
  • LRG_765p1:p.Thr599Pro
  • NC_000015.9:g.89868835T>G
  • NM_002693.2:c.1795A>C
Protein change:
T599P
Links:
dbSNP: rs1064796458
NCBI 1000 Genomes Browser:
rs1064796458
Molecular consequence:
  • NM_001126131.2:c.1795A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002693.3:c.1795A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000573192GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Feb 17, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000573192.4

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

Description

The T599P variant in the POLG gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The T599P variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The T599P variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret T599P as a variant of uncertain significance.

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

Last Updated: Feb 20, 2024