ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.3329+6C>T

gnomAD frequency: 0.01304  dbSNP: rs113873225
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000144991 SCV000051900 benign not specified 2018-09-06 criteria provided, single submitter clinical testing Variant summary: ABCC8 c.3329+6C>T alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.012 in 274898 control chromosomes in the gnomAD database, including 26 homozygotes. The observed variant frequency is approximately 557705.035 fold of the estimated maximal expected allele frequency for a pathogenic variant in ABCC8 causing Neonatal Diabetes Mellitus phenotype (2.1e-08), strongly suggesting that the variant is benign. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as benign.
Eurofins NTD LLC (GA) RCV000144991 SCV000228302 benign not specified 2015-01-22 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000144991 SCV000303803 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000376345 SCV000369290 likely benign Diabetes mellitus, transient neonatal, 2 2018-03-08 criteria provided, single submitter clinical testing 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, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services,Illumina RCV000286774 SCV000369291 likely benign Permanent neonatal diabetes mellitus 2018-03-08 criteria provided, single submitter clinical testing 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, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services,Illumina RCV000323116 SCV000369292 likely benign Hyperinsulinemic hypoglycemia, familial, 1 2018-03-08 criteria provided, single submitter clinical testing 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, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV001512800 SCV001720265 benign not provided 2021-12-18 criteria provided, single submitter clinical testing
GeneDx RCV001512800 SCV001873458 benign not provided 2020-02-27 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23652837)
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002226655 SCV002505497 benign Transitory neonatal diabetes mellitus criteria provided, single submitter research Mutations in ABCC8 gene are associated with both neonatal diabetes mellitus as well as MODY. Patients with this mutation may respond to sulfonylureas. However, no sufficient evidence is found to ascertain the role of rs113873225 variant in Diabetes Mellitus yet.
Genetic Services Laboratory,University of Chicago RCV000144991 SCV000192027 likely benign not specified no assertion criteria provided clinical testing
Natera, Inc. RCV001277192 SCV001464090 benign Hereditary hyperinsulinism 2020-09-16 no assertion criteria provided clinical testing

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