NM_002693.3(POLG):c.1790G>A (p.Arg597Gln) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Aug 29, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV001546774.3

Allele description [Variation Report for NM_002693.3(POLG):c.1790G>A (p.Arg597Gln)]

NM_002693.3(POLG):c.1790G>A (p.Arg597Gln)

Gene:

POLG:DNA polymerase gamma, catalytic subunit [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q26.1

Genomic location:

Preferred name:

NM_002693.3(POLG):c.1790G>A (p.Arg597Gln)

Other names:

p.Arg597Gln

HGVS:

NC_000015.10:g.89325609C>T
NG_008218.2:g.14187G>A
NM_001126131.2:c.1790G>A
NM_002693.3:c.1790G>AMANE SELECT
NP_001119603.1:p.Arg597Gln
NP_002684.1:p.Arg597Gln
NP_002684.1:p.Arg597Gln
LRG_765t1:c.1790G>A
LRG_765:g.14187G>A
LRG_765p1:p.Arg597Gln
NC_000015.9:g.89868840C>T
NM_002693.2:c.1790G>A

Protein change:

R597Q

Links:

dbSNP: rs1001570418

NCBI 1000 Genomes Browser:

rs1001570418

Molecular consequence:

NM_001126131.2:c.1790G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_002693.3:c.1790G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001766355	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (May 7, 2020)	germline	clinical testing	Citation Link,
SCV005411132	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Aug 29, 2024)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 35289132, 39118480, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001766355

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(May 7, 2020)

germline

clinical testing

Citation Link,

SCV005411132

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Aug 29, 2024)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Novel and recurrent nuclear gene variations in a cohort of Chinese progressive external ophthalmoplegia patients with multiple mtDNA deletions.

Hou Y, Zhao X, Xie Z, Yu M, Lv H, Zhang W, Yuan Y, Wang Z.

Mol Genet Genomic Med. 2022 May;10(5):e1921. doi: 10.1002/mgg3.1921. Epub 2022 Mar 15.

PubMed [citation]

PMID:: 35289132
PMCID:: PMC9034679

The clinical and genetic spectrum of mitochondrial diseases in China: A multicenter retrospective cross-sectional study.

Zhao Y, Zhao X, Ji K, Wang J, Zhao Y, Lin J, Gang Q, Yu M, Yuan Y, Jiang H, Sun C, Fang F, Yan C, Wang Z.

Clin Genet. 2024 Dec;106(6):733-744. doi: 10.1111/cge.14605. Epub 2024 Aug 9.

PubMed [citation]

PMID:: 39118480

See all PubMed Citations (3)

Details of each submission

From GeneDx, SCV001766355.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Mayo Clinic Laboratories, Mayo Clinic, SCV005411132.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (3)

Description

PM2, PM3_supporting, PM5

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Nov 30, 2024

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