ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.2497C>T (p.Gln833Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003476601 SCV004202658 likely pathogenic Type 2 diabetes mellitus 2023-05-16 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004596587 SCV005088745 pathogenic Hyperinsulinemic hypoglycemia, familial, 1 2021-10-01 criteria provided, single submitter clinical testing This variant seems to be a novel variant, as it has not been previously reported in population databases or in the literature. However, several other nonsense variants such lying downstream of the identified variant, have been previously reported as pathogenic in the ClinVar database context of familial hyperinsulinemic hypoglycemia 1 and familial hyperinsulinism. Loss-of-function variants in the ABCC8 gene are known to be pathogenic [PMID: 20685672, 23345197].

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