NM_002693.3(POLG):c.695G>A (p.Arg232His) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 23, 2023
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000412961.3

Allele description [Variation Report for NM_002693.3(POLG):c.695G>A (p.Arg232His)]

NM_002693.3(POLG):c.695G>A (p.Arg232His)

Genes:

POLG:DNA polymerase gamma, catalytic subunit [Gene - OMIM - HGNC]
POLGARF:POLG alternative reading frame [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q26.1

Genomic location:

Preferred name:

NM_002693.3(POLG):c.695G>A (p.Arg232His)

HGVS:

NC_000015.10:g.89330241C>T
NG_008218.2:g.9555G>A
NM_001126131.2:c.695G>A
NM_002693.3:c.695G>AMANE SELECT
NP_001119603.1:p.Arg232His
NP_002684.1:p.Arg232His
NP_002684.1:p.Arg232His
LRG_765t1:c.695G>A
LRG_765:g.9555G>A
LRG_765p1:p.Arg232His
NC_000015.9:g.89873472C>T
NM_002693.2:c.695G>A
P54098:p.Arg232His

Protein change:

R232H

Links:

UniProtKB: P54098#VAR_058871; dbSNP: rs113994093

NCBI 1000 Genomes Browser:

rs113994093

Molecular consequence:

NM_001126131.2:c.695G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_002693.3:c.695G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000491139	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Oct 23, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000491139

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Oct 23, 2023)

germline

clinical testing

Citation Link

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

Details of each submission

From GeneDx, SCV000491139.3

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

Description

Published functional studies demonstrate a reduction in DNA processivity and polymerase gamma holoenzyme steady state levels (Lee et al., 2010; Macao et al., 2015); Not observed at a significant frequency in large population cohorts (gnomAD); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 25585994, 23430834, 20301791, 18828154, 22237560, 23921535, 17088268, 26095671, 16896309, 18195151, 22000311, 27538604, 27475922, 26056153, 24508722, 32391929, 20513922)

#	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

Last Updated: Sep 29, 2024

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