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NM_020247.5(COQ8A):c.67G>A (p.Val23Met)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Uncertain significance(4)

Review status:
criteria provided, conflicting interpretations
Submissions:
6 (Most recent: Sep 13, 2021)
Last evaluated:
Dec 28, 2020
Accession:
VCV000136295.7
Variation ID:
136295
Description:
single nucleotide variant
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NM_020247.5(COQ8A):c.67G>A (p.Val23Met)

Allele ID
139998
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q42.13
Genomic location
1: 226961452 (GRCh38) GRCh38 UCSC
1: 227149153 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.227149153G>A
NC_000001.11:g.226961452G>A
NG_012825.2:g.68917G>A
... more HGVS
Protein change
V23M
Other names
p.V23M:GTG>ATG
Canonical SPDI
NC_000001.11:226961451:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (A)

Allele frequency
1000 Genomes Project 0.00020
Trans-Omics for Precision Medicine (TOPMed) 0.00068
Exome Aggregation Consortium (ExAC) 0.00053
The Genome Aggregation Database (gnomAD) 0.00057
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00069
The Genome Aggregation Database (gnomAD), exomes 0.00053
Links
ClinGen: CA289296
dbSNP: rs35582308
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 4 criteria provided, multiple submitters, no conflicts Dec 28, 2020 RCV000676176.5
Benign 1 criteria provided, single submitter Feb 14, 2013 RCV000123533.1
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV001095968.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
COQ8A - - GRCh38
GRCh37
322 357

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Sep 01, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001500884.2
Submitted: (Jul 04, 2021)
Evidence details
Uncertain significance
(Dec 28, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: unknown
Athena Diagnostics Inc
Accession: SCV000840709.3
Submitted: (Sep 13, 2021)
Evidence details
Benign
(Feb 14, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000166871.12
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Coenzyme Q10 deficiency, primary, 4
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001252148.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(Oct 27, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001532566.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces valine with methionine at codon 23 of the COQ8A protein (p.Val23Met). The valine residue is weakly conserved and there is a … (more)
Uncertain significance
(Feb 24, 2016)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: unknown
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV000801928.1
Submitted: (May 23, 2018)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs35582308...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Sep 18, 2021