ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.4383_4384dup (p.Val1462fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili RCV003405215 SCV004123114 likely pathogenic Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Diabetes mellitus, permanent neonatal 3 2023-11-16 criteria provided, single submitter clinical testing The variant in affected individuals is heterozygous. The affected individual is a newborn with impaired glucose metabolism, with clinical diagnosis of familial hyperinsulinism and or hypoglycemia. In summary, the variant meets our criteria to be classified as likely pathogenic.

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