NM_002693.2(POLG):c.2642C>T (p.Pro881Leu) AND not provided

Clinical significance:Uncertain significance (Last evaluated: May 10, 2019)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000734714.3

Allele description [Variation Report for NM_002693.2(POLG):c.2642C>T (p.Pro881Leu)]

NM_002693.2(POLG):c.2642C>T (p.Pro881Leu)

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.2642C>T (p.Pro881Leu)
Other names:
p.P881L:CCA>CTA
HGVS:
  • NC_000015.10:g.89321217G>A
  • NG_008218.2:g.18579C>T
  • NM_001126131.2:c.2642C>T
  • NM_002693.2:c.2642C>T
  • NP_001119603.1:p.Pro881Leu
  • NP_002684.1:p.Pro881Leu
  • LRG_765t1:c.2642C>T
  • LRG_765:g.18579C>T
  • LRG_765p1:p.Pro881Leu
  • NC_000015.9:g.89864448G>A
Protein change:
P881L
Links:
dbSNP: rs375935084
NCBI 1000 Genomes Browser:
rs375935084
Molecular consequence:
  • NM_001126131.2:c.2642C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002693.2:c.2642C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000242301GeneDxcriteria provided, single submitter
Uncertain significance
(Sep 17, 2018)
germlineclinical testing

Citation Link,

SCV000862878EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Aug 10, 2018)
germlineclinical testing

Citation Link,

SCV001145156Athena Diagnostics Inccriteria provided, single submitter
Uncertain significance
(May 10, 2019)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From GeneDx, SCV000242301.7

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

Description

The P881L variant in the POLG gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The P881L variant is observed in 10/276906 (0.004%) alleles in large population cohorts (Lek et al., 2016). The P881L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret P881L as a variant of uncertain significance.

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

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000862878.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From Athena Diagnostics Inc, SCV001145156.1

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

Last Updated: Feb 27, 2021

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