NM_002693.3(POLG):c.3287G>A (p.Arg1096His) AND not provided

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Nov 10, 2021
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:: RCV000188614.18

Allele description [Variation Report for NM_002693.3(POLG):c.3287G>A (p.Arg1096His)]

NM_002693.3(POLG):c.3287G>A (p.Arg1096His)

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.3287G>A (p.Arg1096His)

Other names:

p.R1096H:CGT>CAT

HGVS:

NC_000015.10:g.89318736C>T
NG_008218.2:g.21060G>A
NG_011736.1:g.79774C>T
NM_001126131.2:c.3287G>A
NM_002693.3:c.3287G>AMANE SELECT
NP_001119603.1:p.Arg1096His
NP_002684.1:p.Arg1096His
NP_002684.1:p.Arg1096His
LRG_765t1:c.3287G>A
LRG_500:g.79774C>T
LRG_765:g.21060G>A
LRG_765p1:p.Arg1096His
NC_000015.9:g.89861967C>T
NM_002693.2:c.3287G>A
P54098:p.Arg1096His

Protein change:

R1096H

Links:

UniProtKB: P54098#VAR_058894; dbSNP: rs368435864

NCBI 1000 Genomes Browser:

rs368435864

Molecular consequence:

NM_001126131.2:c.3287G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_002693.3:c.3287G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000242237	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Nov 10, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000242237

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Nov 10, 2021)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000242237.13

#	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 damaging effect (Stumpf et al., 2010; Sohl et al., 2013); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 23430834, 23873972, 17280874, 24265579, 23208208, 20185557, 19752458, 23077218, 21880868, 22189570, 20843780, 21305355, 20803511, 23545419, 12707443, 29025585, 22176657, 34288125, 34690748, 25129007, 25340760, 32347949, 16621917, 33046616)

#	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 Eurofins Ntd Llc (ga), SCV000706349.2

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

#	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		not provided	not provided	not provided	not provided

Flagged submissions

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000706349	Eurofins Ntd Llc (ga)	flagged submission Reason: Older and outlier claim with insufficient supporting evidence Notes: None (EGL Classification Definitions 2015)	Uncertain significance (Feb 9, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000706349

Eurofins Ntd Llc (ga)

flagged submission

Reason: Older and outlier claim with insufficient supporting evidence

Notes: None

(EGL Classification Definitions 2015)

Uncertain significance
(Feb 9, 2017)

germline

clinical testing

Citation Link

Last Updated: Jan 13, 2025

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