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NM_004006.3(DMD):c.1095A>C (p.Gln365His)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(6);Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
10 (Most recent: Sep 24, 2021)
Last evaluated:
May 18, 2021
Accession:
VCV000282487.12
Variation ID:
282487
Description:
single nucleotide variant
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NM_004006.3(DMD):c.1095A>C (p.Gln365His)

Allele ID
266724
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xp21.1
Genomic location
X: 32645018 (GRCh38) GRCh38 UCSC
X: 32663135 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_199:g.699592A>C
LRG_199t1:c.1095A>C LRG_199p1:p.Gln365His
NC_000023.11:g.32645018T>G
... more HGVS
Protein change
Q365H, Q361H, Q242H, Q357H
Other names
-
Canonical SPDI
NC_000023.11:32645017:T:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00027
Trans-Omics for Precision Medicine (TOPMed) 0.00037
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00066
The Genome Aggregation Database (gnomAD), exomes 0.00053
Exome Aggregation Consortium (ExAC) 0.00062
Links
ClinGen: CA10379975
dbSNP: rs1800266
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 3 criteria provided, multiple submitters, no conflicts Jun 25, 2020 RCV000367474.6
Benign 2 criteria provided, multiple submitters, no conflicts May 18, 2021 RCV000458417.7
Likely benign 1 criteria provided, single submitter Jun 20, 2018 RCV000618297.1
Uncertain significance 1 criteria provided, single submitter Apr 27, 2017 RCV001168120.1
Benign 3 criteria provided, single submitter Feb 25, 2021 RCV001701930.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DMD Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
4833 5050

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Sep 07, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000333986.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Jan 18, 2019)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000966290.1
Submitted: (Mar 21, 2019)
Evidence details
Comment:
The p.Gln365His variant in DMD is classified as benign because it has been ident ified in 0.15% (29/19076) of South Asian chromosomes including 16 hemizygotes … (more)
Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 3B
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001330690.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Benign
(Jun 25, 2020)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001372390.1
Submitted: (Jul 09, 2020)
Evidence details
Publications
PubMed (1)
Comment:
Variant summary: DMD c.1095A>C (p.Gln365His) results in a non-conservative amino acid change in the encoded protein sequence. Three of four in-silico tools predict a damaging … (more)
Likely benign
(Jun 20, 2018)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000735861.3
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (1)
Comment:
Insufficient evidence
Benign
(Dec 03, 2020)
criteria provided, single submitter
Method: clinical testing
Duchenne muscular dystrophy
Allele origin: germline
Invitae
Accession: SCV000560828.6
Submitted: (Jan 07, 2021)
Evidence details
Benign
(May 18, 2021)
criteria provided, single submitter
Method: clinical testing
Duchenne muscular dystrophy
Allele origin: germline
Nilou-Genome Lab
Accession: SCV001737200.1
Submitted: (Jun 15, 2021)
Evidence details
Benign
(Feb 25, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000518249.4
Submitted: (Sep 24, 2021)
Evidence details
Comment:
This variant is associated with the following publications: (PMID: 7849724, 24274981, 19937601)
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Genome Diagnostics Laboratory, University Medical Center Utrecht
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001931511.1
Submitted: (Sep 23, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001970651.1
Submitted: (Sep 21, 2021)
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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Title Author Journal Year Link
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. Flanigan KM Human mutation 2009 PMID: 19937601
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=DMD - - - -

Text-mined citations for rs1800266...

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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 Nov 06, 2021