ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.824G>A (p.Arg275Gln)

gnomAD frequency: 0.00006  dbSNP: rs185040406
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center RCV000490279 SCV000267203 likely benign Type 2 diabetes mellitus 2016-03-18 criteria provided, single submitter reference population
Eurofins Ntd Llc (ga) RCV000369588 SCV000342293 uncertain significance not provided 2016-05-19 criteria provided, single submitter clinical testing
Counsyl RCV000671927 SCV000796963 uncertain significance Hyperinsulinemic hypoglycemia, familial, 1 2018-01-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000369588 SCV001082998 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001108196 SCV001265407 uncertain significance Permanent neonatal diabetes mellitus 2017-04-28 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV000671927 SCV001265408 uncertain significance Hyperinsulinemic hypoglycemia, familial, 1 2017-04-28 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001108197 SCV001265409 benign Diabetes mellitus, transient neonatal, 2 2017-04-28 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Genetic Services Laboratory, University of Chicago RCV001818510 SCV002068214 uncertain significance not specified 2019-04-12 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000369588 SCV004238851 uncertain significance not provided 2022-12-22 criteria provided, single submitter clinical testing
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796105 SCV005416357 uncertain significance Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus; Diabetes mellitus, permanent neonatal 3 criteria provided, single submitter clinical testing PM2
Natera, Inc. RCV001279202 SCV001466285 likely benign Hereditary hyperinsulinism 2020-10-07 no assertion criteria provided clinical testing

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