ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.3117C>A (p.Ser1039Arg)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004536651 SCV004117576 uncertain significance ABCC8-related disorder 2023-04-06 criteria provided, single submitter clinical testing The ABCC8 c.3117C>A variant is predicted to result in the amino acid substitution p.Ser1039Arg. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
GeneDx RCV004784154 SCV005396002 uncertain significance not provided 2024-05-09 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV005047579 SCV005676301 uncertain significance Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus; Diabetes mellitus, permanent neonatal 3 2024-01-09 criteria provided, single submitter clinical testing

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