NM_002693.2(POLG):c.1550G>T (p.Gly517Val) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Benign(2);Likely benign(2);Uncertain significance(1) (Last evaluated: Feb 28, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
5 submissions [Details]
Record status:
current
Accession:
RCV000223970.5

Allele description [Variation Report for NM_002693.2(POLG):c.1550G>T (p.Gly517Val)]

NM_002693.2(POLG):c.1550G>T (p.Gly517Val)

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.1550G>T (p.Gly517Val)
Other names:
p.G517V:GGG>GTG
HGVS:
  • NC_000015.10:g.89326947C>A
  • NG_008218.2:g.12849G>T
  • NM_001126131.1:c.1550G>T
  • NM_002693.2:c.1550G>T
  • NP_001119603.1:p.Gly517Val
  • NP_002684.1:p.Gly517Val
  • LRG_765t1:c.1550G>T
  • LRG_765:g.12849G>T
  • LRG_765p1:p.Gly517Val
  • NC_000015.9:g.89870178C>A
  • P54098:p.Gly517Val
Protein change:
G517V
Links:
UniProtKB: P54098#VAR_058879; dbSNP: rs61752783
NCBI 1000 Genomes Browser:
rs61752783
Molecular consequence:
  • NM_002693.2:c.1550G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000281444Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinicscriteria provided, single submitter
Likely Benign
(May 19, 2016)
germlineclinical testing

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

SCV000608735Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Uncertain significance
(Feb 28, 2018)
germlineclinical testing

Citation Link,

SCV000802090Mayo Clinic Genetic Testing Laboratories,Mayo Clinicno assertion criteria providedLikely benign
(Mar 8, 2016)
unknownclinical testing

SCV000843315Athena Diagnostics Inccriteria provided, single submitter
Benign
(Sep 7, 2017)
germlineclinical testing

PubMed (17)
[See all records that cite these PMIDs]

SCV000884403ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Benign
(Jan 28, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot providednot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

Horvath R, Hudson G, Ferrari G, F├╝tterer N, Ahola S, Lamantea E, Prokisch H, Lochm├╝ller H, McFarland R, Ramesh V, Klopstock T, Freisinger P, Salvi F, Mayr JA, Santer R, Tesarova M, Zeman J, Udd B, Taylor RW, Turnbull D, Hanna M, Fialho D, et al.

Brain. 2006 Jul;129(Pt 7):1674-84. Epub 2006 Apr 18.

PubMed [citation]
PMID:
16621917
See all PubMed Citations (18)

Details of each submission

From Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics, SCV000281444.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

Converted during submission to Likely benign.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot provided0.006166not providednot provided

From Praxis fuer Humangenetik Tuebingen, SCV000608735.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

From Mayo Clinic Genetic Testing Laboratories,Mayo Clinic, SCV000802090.1

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

From Athena Diagnostics Inc, SCV000843315.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (17)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV000884403.1

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

Last Updated: Mar 30, 2019

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