ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.1647del (p.Ile550fs)

dbSNP: rs2133554613
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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 RCV001390075 SCV001591684 pathogenic not provided 2022-03-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile550Serfs*8) 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 variant has not been reported in the literature in individuals affected with ABCC8-related conditions. ClinVar contains an entry for this variant (Variation ID: 1076249). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002493934 SCV002787634 likely pathogenic Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus; Diabetes mellitus, permanent neonatal 3 2022-01-19 criteria provided, single submitter clinical testing

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