ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.1A>G (p.Met1Val)

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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 RCV003062345 SCV003440254 pathogenic not provided 2022-03-10 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the ABCC8 mRNA. The next in-frame methionine is located at codon 80. This variant is not present in population databases (gnomAD no frequency). Disruption of the initiator codon has been observed in individual(s) with hyperinsulinism (PMID: 17378627). This variant disrupts a region of the ABCC8 protein in which other variant(s) (p.Val21Asp) have been determined to be pathogenic (PMID: 19475716, 20685672, 23345197, 27573238). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005045198 SCV005676133 likely pathogenic Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus; Diabetes mellitus, permanent neonatal 3 2024-02-20 criteria provided, single submitter clinical testing

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