ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.2992C>T (p.Arg998Ter)

gnomAD frequency: 0.00001  dbSNP: rs769518471
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000499389 SCV000592991 pathogenic Hyperinsulinemic hypoglycemia, familial, 1 2015-11-25 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000517672 SCV000612206 pathogenic not provided 2015-09-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000517672 SCV000931645 pathogenic not provided 2024-01-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg998*) in the ABCC8 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ABCC8 are known to be pathogenic (PMID: 20685672, 23345197). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with autosomal recessive diffuse or focal hyperinsulinism (PMID: 14692646, 16357843, 17236890, 20943781). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as c.2995C>T, p.Arg999*. ClinVar contains an entry for this variant (Variation ID: 434053). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV000517672 SCV002018617 pathogenic not provided 2022-10-04 criteria provided, single submitter clinical testing
GeneDx RCV000517672 SCV002577265 pathogenic not provided 2022-09-26 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 20943781, 25525159, 14692646, 31028937, 23275527, 14715863, 16357843, 17236890, 15562009, 28701683, 31980526)
Baylor Genetics RCV003464074 SCV004197908 pathogenic Type 2 diabetes mellitus 2024-03-25 criteria provided, single submitter clinical testing
Personalized Diabetes Medicine Program, University of Maryland School of Medicine RCV000664138 SCV000787590 uncertain significance Monogenic diabetes 2017-03-03 flagged submission research ACMG Criteria:PP3 (2 predictors), BP4 (2 predictors), PVS1 (stopgain)
Counsyl RCV000499389 SCV001132112 pathogenic Hyperinsulinemic hypoglycemia, familial, 1 2018-12-21 no assertion criteria provided clinical testing
Natera, Inc. RCV001277193 SCV001464091 pathogenic Hereditary hyperinsulinism 2020-09-16 no assertion criteria provided clinical testing

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