ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.1920G>A (p.Ala640=) (rs146156937)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000404181 SCV000369359 likely benign Transient neonatal diabetes mellitus 2 2017-04-27 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 RCV000295518 SCV000369360 likely benign Hyperinsulinemic hypoglycemia, familial, 1 2017-04-27 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 RCV000352596 SCV000369361 likely benign Permanent neonatal diabetes mellitus 2017-04-27 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000590129 SCV000696584 benign not provided 2017-08-21 criteria provided, single submitter clinical testing Variant summary: The ABCC8 c.1920G>A (p.Ala640Ala) variant involves the alteration of a non-conserved nucleotide causing a synonymous change and 4/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may alter ESE binding. However, these predictions have yet to be confirmed by functional studies. This variant was found in 151/276676 control chromosomes at a frequency of 0.0005458, which is approximately 26197 times the estimated maximal expected allele frequency of a pathogenic ABCC8 variant (0), suggesting this variant is likely a benign polymorphism. In addition, a clinical diagnostic laboratory classified this variant as likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications. Taken together, this variant is classified as benign.
Invitae RCV000590129 SCV001019690 likely benign not provided 2020-11-26 criteria provided, single submitter clinical testing
GeneDx RCV000590129 SCV001771546 likely benign not provided 2020-02-13 criteria provided, single submitter clinical testing

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