ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.1067A>G (p.Tyr356Cys) (rs59852838)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV000445377 SCV000537079 uncertain significance Monogenic diabetes 2016-09-23 criteria provided, single submitter research ACMG Criteria:PP3, PS3 (functional evidence PMID 18346985). Notes: Family study showed one child of the proband with impaired glucose intolerance and the variant and another child of the same proband with normal glucose tolerance and the variant in PMID 22210575
Athena Diagnostics Inc RCV000710369 SCV000840579 uncertain significance not provided 2018-07-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001104821 SCV001261714 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 Clinical Services Laboratory,Illumina RCV001104822 SCV001261715 likely benign Transient neonatal diabetes mellitus 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV001104823 SCV001261716 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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