ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.973G>A (p.Asp325Asn)

gnomAD frequency: 0.00008  dbSNP: rs781480098
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001817965 SCV002067504 uncertain significance not specified 2020-06-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002386579 SCV002693414 uncertain significance Inborn genetic diseases 2021-08-16 criteria provided, single submitter clinical testing The p.D325N variant (also known as c.973G>A), located in coding exon 6 of the ABCC8 gene, results from a G to A substitution at nucleotide position 973. The aspartic acid at codon 325 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002478065 SCV002778831 uncertain significance Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus; Diabetes mellitus, permanent neonatal 3 2021-11-02 criteria provided, single submitter clinical testing

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