Variant summary: ABCC8 c.3544C>T (p.Arg1182Trp) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251376 control chromosomes. c.3544C>T, also described as p.R1183W, has been reported in the literature in multiple individuals affected with Neonatal diabetes mellitus, and in at-least three cases, this variant arose de novo (Flanagan_2007, Ngoc_2021). Parents carrying this variant were also reported to be unaffected (Flanagan_2007). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 17446535, 34566892). ClinVar contains an entry for this variant (Variation ID: 210076. Pathogenic/Likely pathogenic). Based on the evidence outlined above, the variant was classified as pathogenic.
ClinVar Genomic variation as it relates to human health
NM_000352.6(ABCC8):c.3544C>T (p.Arg1182Trp)
Germline
Classification
Help
criteria provided, multiple submitters, no conflicts. Learn more about how ClinVar calculates review status.
Pathogenic/Likely pathogenic
7 out of 11 submissions contributed to this classification
Help
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
11
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_000352.6(ABCC8):c.3544C>T (p.Arg1182Trp)
Variation ID: 210076 Accession: VCV000210076.20
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 11p15.1 11: 17404525 (GRCh38) [ NCBI UCSC ] 11: 17426072 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Oct 5, 2015 Nov 22, 2025 May 16, 2025 - HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_000352.6:c.3544C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000343.2:p.Arg1182Trp missense NM_000352.5:c.3544C>T NM_001287174.3:c.3547C>T NP_001274103.1:p.Arg1183Trp missense NM_001351295.2:c.3610C>T NP_001338224.1:p.Arg1204Trp missense NM_001351296.2:c.3544C>T NP_001338225.1:p.Arg1182Trp missense NM_001351297.2:c.3541C>T NP_001338226.1:p.Arg1181Trp missense NR_147094.2:n.3693C>T non-coding transcript variant NC_000011.10:g.17404525G>A NC_000011.9:g.17426072G>A NG_008867.1:g.77378C>T LRG_790:g.77378C>T LRG_790t1:c.3544C>T LRG_790p1:p.Arg1182Trp LRG_790t2:c.3547C>T LRG_790p2:p.Arg1183Trp - Protein change
- R1182W, R1183W, R1204W, R1181W
- Other names
- -
- Canonical SPDI
- NC_000011.10:17404524:G:A
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
- -
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
-
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00000
The Genome Aggregation Database (gnomAD) 0.00001
- Links
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
| ABCC8 | Gene associated with autosomal recessive phenotype | No evidence available |
GRCh38 GRCh37 |
2733 | 2884 | |
Conditions - Germline
| Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
|---|---|---|---|---|
| Pathogenic (2) |
criteria provided, single submitter
|
Nov 24, 2014 | RCV000192916.9 | |
| Pathogenic (1) |
no assertion criteria provided
|
Nov 15, 2020 | RCV001640282.5 | |
| Likely pathogenic (1) |
criteria provided, single submitter
|
- | RCV002051825.4 | |
| Pathogenic (1) |
criteria provided, single submitter
|
Jun 18, 2024 | RCV002500586.4 | |
| Pathogenic/Likely pathogenic (2) |
criteria provided, multiple submitters, no conflicts
|
May 16, 2025 | RCV002517038.7 | |
| Pathogenic (1) |
criteria provided, single submitter
|
Jan 12, 2024 | RCV003987437.1 | |
|
ABCC8-related disorder
|
Pathogenic (1) |
criteria provided, single submitter
|
Aug 6, 2024 | RCV005230050.1 |
| Pathogenic (1) |
no assertion criteria provided
|
May 9, 2025 | RCV005410894.1 | |
| Pathogenic (1) |
no assertion criteria provided
|
May 9, 2025 | RCV005410893.1 |
Submissions - Germline
| Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
Expand all rows
Collapse all rows
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
|---|---|---|---|---|---|
|
Pathogenic
(Nov 24, 2014)
C
Contributing to aggregate classification
|
criteria provided, single submitter
|
Diabetes mellitus, transient neonatal 2 |
Genetic Services Laboratory, University of Chicago
Accession: SCV000246296.1
First in ClinVar: Oct 05, 2015 Last updated: Oct 05, 2015 |
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
|
|
|
Pathogenic
(Jan 12, 2024)
C
Contributing to aggregate classification
|
criteria provided, single submitter
|
Familial hyperinsulinism |
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV004804523.1
First in ClinVar: Mar 30, 2024 Last updated: Mar 30, 2024 |
Comment:
show
Variant summary: ABCC8 c.3544C>T (p.Arg1182Trp) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251376 control chromosomes. c.3544C>T, also described as p.R1183W, has been reported in the literature in multiple individuals affected with Neonatal diabetes mellitus, and in at-least three cases, this variant arose de novo (Flanagan_2007, Ngoc_2021). Parents carrying this variant were also reported to be unaffected (Flanagan_2007). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 17446535, 34566892). ClinVar contains an entry for this variant (Variation ID: 210076. Pathogenic/Likely pathogenic). Based on the evidence outlined above, the variant was classified as pathogenic. (less)
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
|
|
|
Pathogenic
(Jun 18, 2024)
C
Contributing to aggregate classification
|
criteria provided, single submitter
|
Type 2 diabetes mellitus
Leucine-induced hypoglycemia Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, transient neonatal, 2 Diabetes mellitus, permanent neonatal 3
Explanation for multiple conditions: Uncertain.
The variant was classified for several related diseases, possibly a spectrum of disease; the variant may be associated with one or more the diseases. |
Fulgent Genetics, Fulgent Genetics
Accession: SCV002806626.2
First in ClinVar: Dec 31, 2022 Last updated: Jan 25, 2025 |
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
|
|
|
Pathogenic
(Nov 13, 2024)
C
Contributing to aggregate classification
|
criteria provided, single submitter
|
not provided |
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV003522326.3
First in ClinVar: Feb 07, 2023 Last updated: Feb 25, 2025 |
Comment:
show
This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 1182 of the ABCC8 protein (p.Arg1182Trp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of autosomal dominant neonatal diabetes mellitus (PMID: 17446535, 32893419). In at least one individual the variant was observed to be de novo. This variant is also known as R1183W. ClinVar contains an entry for this variant (Variation ID: 210076). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt ABCC8 protein function with a positive predictive value of 95%. This variant disrupts the p.Arg1182 amino acid residue in ABCC8. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 16885549, 17446535, 22749773, 24622368). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. (less)
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
|
|
|
Pathogenic
(Aug 06, 2024)
C
Contributing to aggregate classification
|
criteria provided, single submitter
|
ABCC8-related disorder
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
Accession: SCV005873815.1
First in ClinVar: Mar 11, 2025 Last updated: Mar 11, 2025 |
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
|
|
|
Likely pathogenic
(May 16, 2025)
C
Contributing to aggregate classification
|
criteria provided, single submitter
|
Not Provided |
GeneDx
Accession: SCV007103596.1
First in ClinVar: Nov 22, 2025 Last updated: Nov 22, 2025 |
Comment:
show
Not observed at significant frequency in large population cohorts (gnomAD); 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: 24622368, 17446535, 32041611, 34014594, 36504295, 32893419, 34566892, 32418263, 31291970, 34631896, 37327085, 26438614, 34789499) (less)
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
|
|
|
Likely pathogenic
(-)
C
Contributing to aggregate classification
|
criteria provided, single submitter
|
Neonatal diabetes mellitus |
Molecular Genetics, Madras Diabetes Research Foundation
Accession: SCV002318410.1
First in ClinVar: Apr 02, 2022 Last updated: Apr 02, 2022 |
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Ethnicity/Population group: Indians
Geographic origin: India
|
|
|
Pathogenic
(May 09, 2025)
N
Not contributing to aggregate classification
|
no assertion criteria provided
|
DIABETES MELLITUS, PERMANENT NEONATAL, 3 |
OMIM
Accession: SCV006076848.1
First in ClinVar: May 15, 2025 Last updated: May 15, 2025 |
Observation: 1
Collection method: literature only
Allele origin: germline
Affected status: not provided
Observation 1
Collection method: literature only
Allele origin: germline
Affected status: not provided
Comment on evidence:
In a 35-year-old woman with maturity-onset diabetes of the young-12 (MODY12; 621196) who had severe microvascular diabetic complications, Timmers et al. (2021) identified heterozygosity for … (more)
In a 35-year-old woman with maturity-onset diabetes of the young-12 (MODY12; 621196) who had severe microvascular diabetic complications, Timmers et al. (2021) identified heterozygosity for a c.3544C-T transition (c.3544C-T, NM_000352.6) in the ABCC8 gene that resulted in an arg1182-to-trp (R1182W) substitution. The mutation was present in 1/152,080 alleles in the gnomAD (v3.1) database. The mutation was subsequently identified in her mother, older daughter, and son. Her mother had diabetes which required only oral agents, and neither of her children had had neonatal diabetes. Timmers et al. (2021) noted that 2 transcripts for the ABCC8 gene differing in length by 1 amino acid arise by alternative splicing at exon 17; thus, residue R1182 may be referred to as R1183 according to another reference sequence. Timmers et al. (2021) identified 10 reports in the literature that included individuals with the R1182W mutation, with phenotypes of transient neonatal diabetes mellitus (TNDM2; 610374), permanent neonatal diabetes permanent neonatal diabetes mellitus (PNDM3; 618857), and MODY. Patients were responsive to sulfonylurea. (less)
|
|
|
Pathogenic
(May 09, 2025)
N
Not contributing to aggregate classification
|
no assertion criteria provided
|
DIABETES MELLITUS, TRANSIENT NEONATAL, 2 |
OMIM
Accession: SCV006076849.1
First in ClinVar: May 15, 2025 Last updated: May 15, 2025 |
Observation: 1
Collection method: literature only
Allele origin: germline
Affected status: not provided
Observation 1
Collection method: literature only
Allele origin: germline
Affected status: not provided
Comment on evidence:
In a 35-year-old woman with maturity-onset diabetes of the young-12 (MODY12; 621196) who had severe microvascular diabetic complications, Timmers et al. (2021) identified heterozygosity for … (more)
In a 35-year-old woman with maturity-onset diabetes of the young-12 (MODY12; 621196) who had severe microvascular diabetic complications, Timmers et al. (2021) identified heterozygosity for a c.3544C-T transition (c.3544C-T, NM_000352.6) in the ABCC8 gene that resulted in an arg1182-to-trp (R1182W) substitution. The mutation was present in 1/152,080 alleles in the gnomAD (v3.1) database. The mutation was subsequently identified in her mother, older daughter, and son. Her mother had diabetes which required only oral agents, and neither of her children had had neonatal diabetes. Timmers et al. (2021) noted that 2 transcripts for the ABCC8 gene differing in length by 1 amino acid arise by alternative splicing at exon 17; thus, residue R1182 may be referred to as R1183 according to another reference sequence. Timmers et al. (2021) identified 10 reports in the literature that included individuals with the R1182W mutation, with phenotypes of transient neonatal diabetes mellitus (TNDM2; 610374), permanent neonatal diabetes permanent neonatal diabetes mellitus (PNDM3; 618857), and MODY. Patients were responsive to sulfonylurea. (less)
|
|
|
Pathogenic
(May 09, 2025)
N
Not contributing to aggregate classification
|
no assertion criteria provided
|
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 12 |
OMIM
Accession: SCV006076852.1
First in ClinVar: May 15, 2025 Last updated: May 15, 2025 |
Observation: 1
Collection method: literature only
Allele origin: germline
Affected status: not provided
Observation 1
Collection method: literature only
Allele origin: germline
Affected status: not provided
Comment on evidence:
In a 35-year-old woman with maturity-onset diabetes of the young-12 (MODY12; 621196) who had severe microvascular diabetic complications, Timmers et al. (2021) identified heterozygosity for … (more)
In a 35-year-old woman with maturity-onset diabetes of the young-12 (MODY12; 621196) who had severe microvascular diabetic complications, Timmers et al. (2021) identified heterozygosity for a c.3544C-T transition (c.3544C-T, NM_000352.6) in the ABCC8 gene that resulted in an arg1182-to-trp (R1182W) substitution. The mutation was present in 1/152,080 alleles in the gnomAD (v3.1) database. The mutation was subsequently identified in her mother, older daughter, and son. Her mother had diabetes which required only oral agents, and neither of her children had had neonatal diabetes. Timmers et al. (2021) noted that 2 transcripts for the ABCC8 gene differing in length by 1 amino acid arise by alternative splicing at exon 17; thus, residue R1182 may be referred to as R1183 according to another reference sequence. Timmers et al. (2021) identified 10 reports in the literature that included individuals with the R1182W mutation, with phenotypes of transient neonatal diabetes mellitus (TNDM2; 610374), permanent neonatal diabetes permanent neonatal diabetes mellitus (PNDM3; 618857), and MODY. Patients were responsive to sulfonylurea. (less)
|
|
|
Pathogenic
(Nov 15, 2020)
N
Not contributing to aggregate classification
|
no assertion criteria provided
|
Type 2 diabetes mellitus
(Autosomal dominant inheritance)
|
Department of Endocrinology, Antwerp University Hospital
Accession: SCV001519034.2
First in ClinVar: Sep 19, 2021 Last updated: Apr 13, 2025 |
Comment:
show
This is a variant with a reported allele frequency of 0.000003978 according to GnomAD. This, together with Clinvar reports on pathogenicity and variant effect predictor strengthens the indirect evidence for causality. The present mutation has mostly been associated with neonatal diabetes (Flanagan 2007, Batra 2009, Kong 2010, Bonnefond 2013, Beltrand 2015, Zhang 2015, Hashimoto 2016) and in only 3 papers reporting a MODY12 (Reilly 2019, Novak 2020, Gurtunca 2020). (less)
Observation: 1
Collection method: clinical testing
Allele origin: maternal
Affected status: yes
Observation 1
Collection method: clinical testing
Allele origin: maternal
Affected status: yes
Clinical Features:
Maturity onset diabetes mellitus in young (present)
Comment on clinical features:
Problem: A 35-year old woman presented in 2019 with: - a Charcot destruction of the left foot. - HbA1c of 14.2% or 132 mmol/mol with a low c-peptide (0.27 nmol/L at a glycemia of 228 mg/dl) without keto-acidosis. Medical record: - gestational diabetes in 2004, 2007 and 2012, for which she needed to be treated with insulin. - Between and after all three pregnancies, all therapy was stopped. - In 2006, at the fourth month of her second pregnancy: an HbA1c level of 8.1% or 65 mmol/mol with negative screening for Islet Cell Antibodies (ICA), insulin, Glutamic Acid Decarboxylase (GAD)-65 and Tyrosine Phosphatase (IA)-2 antibodies. Familial history: - a mother with type 2 diabetes mellitus, diagnosed a couple of years before, always an HbA1c of less than 7.0% or 53 mmol/mol on metformin monotherapy. No diabetic complications. - a maternal grandmother who had type 1 diabetes mellitus since juvenile age but deceased when the patient was twelve years old - the two siblings of the index patient (one brother and one sister respectively 33 and 31 years old) have no history of diabetes mellitus. - 3 children without diabetes mellitus or neonatal hypoglycemia Current work-up (during admission in 2019): - presence of severe non-proliferative diabetic retinopathy - discrete severe non-proliferative diabetic retinopathy - active sensori-motoric axonal demyelinating polyneuropathy on electromyography (EMG). - Cardiac ultrasound and evaluation of lower limb vasculature revealed no abnormalities. - minor dyslipidemia: total cholesterol 165 mg/dl; HDL cholesterol 36 mg/dl; LDL cholesterol 103 mg/dl and triglycerides of 108 mg/dl - body mass index (BMI) of 19.7 kg/m2 - no hypertension. Therapy: - insulin therapy was started with adequate glucose control. - intensive local wound care (including surgical debridements and negative pressure wound therapy), antibiotic therapy and offloading. -the arthropathy progressed rapidly necessitating a below-the-knee amputation. Genetic screening: A MODY screening unveiled a heterozygote c.3544C>T p.(Arg1182Trp) variant of the ATP-binding cassette transporter subfamily C member 8 (ABCC8) gene (reference sequence NM_000352.6), confirming the presence of a MODY12 in this patient. Subsequently, all available family members (her mother, oldest daughter and son) were screened and a heterozygote c.3544C>T p.(Arg1182Trp) variant was found in all of them
Zygosity: Single Heterozygote
Age: 30-39 years
Sex: female
Ethnicity/Population group: Caucasian
Geographic origin: Belgium
|
|
Comment:
Comment:
This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 1182 of the ABCC8 protein (p.Arg1182Trp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of autosomal dominant neonatal diabetes mellitus (PMID: 17446535, 32893419). In at least one individual the variant was observed to be de novo. This variant is also known as R1183W. ClinVar contains an entry for this variant (Variation ID: 210076). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt ABCC8 protein function with a positive predictive value of 95%. This variant disrupts the p.Arg1182 amino acid residue in ABCC8. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 16885549, 17446535, 22749773, 24622368). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Comment:
PS4, PM2, PM5_Supporting, PM6_Strong, PP3
Comment:
Not observed at significant frequency in large population cohorts (gnomAD); 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: 24622368, 17446535, 32041611, 34014594, 36504295, 32893419, 34566892, 32418263, 31291970, 34631896, 37327085, 26438614, 34789499)
Comment:
This is a variant with a reported allele frequency of 0.000003978 according to GnomAD. This, together with Clinvar reports on pathogenicity and variant effect predictor strengthens the indirect evidence for causality. The present mutation has mostly been associated with neonatal diabetes (Flanagan 2007, Batra 2009, Kong 2010, Bonnefond 2013, Beltrand 2015, Zhang 2015, Hashimoto 2016) and in only 3 papers reporting a MODY12 (Reilly 2019, Novak 2020, Gurtunca 2020).
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Molecular Genetics, Clinical Characteristics, and Treatment Outcomes of K(ATP)-Channel Neonatal Diabetes Mellitus in Vietnam National Children's Hospital. | Ngoc CTB | Frontiers in endocrinology | 2021 | PMID: 34566892 |
| ABCC8 variants in MODY12: Review of the literature and report of a case with severe complications. | Timmers M | Diabetes/metabolism research and reviews | 2021 | PMID: 34014594 |
| Genotype-phenotype correlation of K(ATP) channel gene defects causing permanent neonatal diabetes in Indian patients. | Gopi S | Pediatric diabetes | 2021 | PMID: 32893419 |
| 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 |
| Clinical and molecular basis of transient neonatal diabetes mellitus in Brazilian children. | Alves C | Diabetes research and clinical practice | 2012 | PMID: 22749773 |
| Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. | Flanagan SE | Diabetes | 2007 | PMID: 17446535 |
| Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. | Babenko AP | The New England journal of medicine | 2006 | PMID: 16885549 |
Text-mined citations for rs797045209 ...
HelpThese 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 22, 2025
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.