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NM_000352.6(ABCC8):c.4136G>A (p.Arg1379His)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Mar 9, 2020)
Last evaluated:
Sep 28, 2017
Accession:
VCV000585346.2
Variation ID:
585346
Description:
single nucleotide variant
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NM_000352.6(ABCC8):c.4136G>A (p.Arg1379His)

Allele ID
577178
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.1
Genomic location
11: 17395914 (GRCh38) GRCh38 UCSC
11: 17417461 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.9:g.17417461C>T
NG_008867.1:g.85989G>A
NM_000352.6:c.4136G>A MANE Select NP_000343.2:p.Arg1379His missense
... more HGVS
Protein change
R1379H, R1380H, R1378H, R1401H
Other names
-
Canonical SPDI
NC_000011.10:17395913:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs193922401
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Sep 28, 2017 RCV000710386.1
Likely pathogenic 1 no assertion criteria provided Jan 22, 2020 RCV001249023.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ABCC8 - - GRCh38
GRCh37
1052 1121

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Sep 28, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000840596.1
Submitted: (Aug 31, 2018)
Evidence details
Publications
PubMed (8)
Likely pathogenic
(Jan 22, 2020)
no assertion criteria provided
Method: curation
Monogenic diabetes
(Autosomal dominant inheritance)
Allele origin: germline
Broad Institute Rare Disease Group, Broad Institute
Accession: SCV001422930.1
Submitted: (Mar 09, 2020)
Evidence details
Publications
PubMed (4)
Other databases
https://erepo.clinicalgenome.org…
Comment:
The p.Arg1379His (sometimes called p.Arg1380His) variant in ABCC8 has been reported in 12 individuals with Monogenic Diabetes and segregated with disease in 5 affected relatives … (more)

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
Systematic Population Screening, Using Biomarkers and Genetic Testing, Identifies 2.5% of the U.K. Pediatric Diabetes Population With Monogenic Diabetes. Shepherd M Diabetes care 2016 PMID: 27271189
Neuropsychological dysfunction and developmental defects associated with genetic changes in infants with neonatal diabetes mellitus: a prospective cohort study [corrected]. Busiah K The lancet. Diabetes & endocrinology 2013 PMID: 24622368
Incretin effect of glucagon-like peptide 1 receptor agonist is preserved in presence of ABCC8/SUR1 mutation in β-cell. Bourron O Diabetes care 2012 PMID: 23093687
Clinical and metabolic features of adult-onset diabetes caused by ABCC8 mutations. Riveline JP Diabetes care 2012 PMID: 22210575
Heterozygous ABCC8 mutations are a cause of MODY. Bowman P Diabetologia 2012 PMID: 21989597
Mutations in the ABCC8 gene can cause autoantibody-negative insulin-dependent diabetes. Hartemann-Heurtier A Diabetes & metabolism 2009 PMID: 19342262
Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. Flanagan SE Diabetes 2007 PMID: 17446535
New ABCC8 mutations in relapsing neonatal diabetes and clinical features. Vaxillaire M Diabetes 2007 PMID: 17389331
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/2f76fd27-dd25-4876-a643-337d82fe14bf - - - -

Text-mined citations for rs193922401...

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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 Oct 30, 2021