ClinVar Miner

Submissions for variant NM_001287174.2(ABCC8):c.3332+6C>T (rs113873225)

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Total submissions: 9
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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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 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 Clinical Services Laboratory,Illumina RCV000376345 SCV000369290 likely benign Transient neonatal diabetes mellitus 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 Clinical Services Laboratory,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 Clinical Services Laboratory,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 2020-12-08 criteria provided, single submitter clinical testing
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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