ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.1879del (p.His627fs)

dbSNP: rs764613146
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000409962 SCV000592995 pathogenic Hyperinsulinemic hypoglycemia, familial, 1 2015-09-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001067502 SCV001232568 pathogenic not provided 2023-10-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His627Metfs*20) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with congenital hyperinsulinism (PMID: 25584046, 30386300). ClinVar contains an entry for this variant (Variation ID: 370909). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002502425 SCV002804738 pathogenic Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus; Diabetes mellitus, permanent neonatal 3 2022-02-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003463797 SCV004198060 pathogenic Type 2 diabetes mellitus 2023-09-20 criteria provided, single submitter clinical testing
Counsyl RCV000409962 SCV000486339 likely pathogenic Hyperinsulinemic hypoglycemia, familial, 1 2016-05-12 no assertion criteria provided clinical testing
Natera, Inc. RCV001828374 SCV002075750 pathogenic Hereditary hyperinsulinism 2021-02-12 no assertion criteria provided clinical testing

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