NM_002693.2(POLG):c.1491G>C (p.Gln497His) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Dec 4, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000676325.1

Allele description [Variation Report for NM_002693.2(POLG):c.1491G>C (p.Gln497His)]

NM_002693.2(POLG):c.1491G>C (p.Gln497His)

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.1491G>C (p.Gln497His)
Other names:
p.Q497H:CAG>CAC
HGVS:
  • NC_000015.10:g.89327006C>G
  • NG_008218.2:g.12790G>C
  • NM_001126131.1:c.1491G>C
  • NM_002693.2:c.1491G>C
  • NP_001119603.1:p.Gln497His
  • NP_002684.1:p.Gln497His
  • LRG_765t1:c.1491G>C
  • LRG_765:g.12790G>C
  • LRG_765p1:p.Gln497His
  • NC_000015.9:g.89870237C>G
  • NG_008218.1:g.12790G>C
  • P54098:p.Gln497His
Protein change:
Q497H; GLN497HIS
Links:
UniProtKB: P54098#VAR_023669; OMIM: 174763.0016; dbSNP: rs121918052
NCBI 1000 Genomes Browser:
rs121918052
Molecular consequence:
  • NM_002693.2:c.1491G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000242283GeneDxcriteria provided, single submitter
Uncertain significance
(Dec 4, 2018)
germlineclinical testing

Citation Link,

SCV000802091Mayo Clinic Genetic Testing Laboratories,Mayo Clinicno assertion criteria providedUncertain significance
(Mar 8, 2016)
unknownclinical testing

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000242283.12

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

Description

To our knowledge, Q497H has not been reported as an independent disease-causing mutation causing POLG-related disorders when in the homozygous state or in trans with a second variant. Q497H is a non-conservative amino acid substitution of a neutral, polar Glutamine with a positively charged Histidine at a residue that is conserved across mammalian species. In silico analysis predicts this variant is probably damaging to the protein structure/function. The Q497H variant was not observed in approximately 6,400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret Q497H as a variant of unknown significance.

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

From Mayo Clinic Genetic Testing Laboratories,Mayo Clinic, SCV000802091.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 19, 2019

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