NM_002693.2(POLG):c.2368C>T (p.Arg790Cys) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Apr 3, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000188574.2

Allele description

NM_002693.2(POLG):c.2368C>T (p.Arg790Cys)

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.2368C>T (p.Arg790Cys)
Other names:
p.R790C:CGT>TGT
HGVS:
  • NC_000015.10:g.89322800G>A
  • NG_008218.2:g.16996C>T
  • NM_002693.2:c.2368C>T
  • NP_002684.1:p.Arg790Cys
  • NC_000015.9:g.89866031G>A
Protein change:
R790C
Links:
dbSNP: rs775168496
NCBI 1000 Genomes Browser:
rs775168496
Allele Frequency:
0.00003(A)
Molecular consequence:
  • NM_002693.2:c.2368C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000242195GeneDxcriteria provided, single submitter
Uncertain significance
(Apr 3, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000242195.11

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

Description

A variant of uncertain significance has been identified in the POLG gene. The R790C variant has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. A different amino acid substitution at the same position (R790H) was reported previously in a patient with Alper's syndrome in whom a second POLG pathogenic variant was not identified (Tang et al., 2011). The R790C variant is observed in 3/16508 (0.02%) alleles from individuals of South Asian background in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R790C 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 in mammals. In silico analysis predicts this variant is probably damaging to the protein structure/function. However, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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

Last Updated: Apr 28, 2018