ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.1333-1013A>G

dbSNP: rs980458021
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001211946 SCV001383514 pathogenic not provided 2024-01-16 criteria provided, single submitter clinical testing This sequence change falls in intron 8 of the ABCC8 gene. It does not directly change the encoded amino acid sequence of the ABCC8 protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individuals with autosomal recessive diffuse or focal hyperinsulinism (PMID: 23273570). ClinVar contains an entry for this variant (Variation ID: 39472). Studies have shown that this variant results in inclusion of 76 nucleotides from intron 8 and introduces a premature termination codon (PMID: 23273570). The resulting mRNA is expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV000032668 SCV002060016 likely pathogenic Hyperinsulinemic hypoglycemia, familial, 1 2021-11-08 criteria provided, single submitter clinical testing NM_000352.3(ABCC8):c.1333-1013A>G is an intronic variant classified as likely pathogenic in the context of familial hyperinsulinism, ABCC8-related. c.1333-1013A>G has been observed in cases with relevant disease (PMID: 23273570, 32928245). Functional assessments of this variant are available in the literature (PMID: 23273570). c.1333-1013A>G has not been observed in population frequency databases. In summary, NM_000352.3(ABCC8):c.1333-1013A>G is an intronic variant that has functional support for pathogenicity and has been observed more frequently in cases with the relevant disease than in healthy populations. Please note: this variant was assessed in the context of healthy population screening.
Baylor Genetics RCV003466885 SCV004197608 pathogenic Type 2 diabetes mellitus 2023-08-14 criteria provided, single submitter clinical testing
OMIM RCV000032668 SCV000056431 pathogenic Hyperinsulinemic hypoglycemia, familial, 1 2013-01-10 no assertion criteria provided literature only

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