ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.298G>T (p.Glu100Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003557576 SCV004295395 pathogenic not provided 2023-11-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu100*) 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: 21422196). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV004574104 SCV005053703 pathogenic Type 2 diabetes mellitus 2023-11-22 criteria provided, single submitter clinical testing

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