ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.2666A>C (p.Lys889Thr) (rs761862121)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000675026 SCV000800454 uncertain significance Hyperinsulinemic hypoglycemia, familial, 1 2018-06-07 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001102596 SCV001259281 uncertain significance 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 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 RCV001107830 SCV001265014 uncertain significance 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 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 RCV000675026 SCV001265015 uncertain significance 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). 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.
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV001174391 SCV001337529 uncertain significance Monogenic diabetes 2018-10-26 criteria provided, single submitter research ACMG criteria: PP3 (REVEL 0.763 + 8 predictors; not using BP4/2 predictors), PM2 (extremely low frequency in gnomAD)= VUS (Not using PS3- PMID:24814349/Saint Martin 2015 paper, it seems the functional studies aren't completely conclusive- it shows limited effect on channel activity (50% of WT compared to other mutations that maintained less than 85% of WT activity; "The K890T channel showed ~50% and ~70% of the WT response to MgADP and diazoxide, respectively, consistent with the reduced but significant activity in Rb efflux assays." Two cases PMID: 14764815 and PMID: 24814349 but not sure if phenotype is specific so not using PP4)

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