Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002702152 | SCV003547451 | uncertain significance | Inborn genetic diseases | 2020-05-26 | criteria provided, single submitter | clinical testing | The c.2030G>A (p.C677Y) alteration is located in exon 14 (coding exon 14) of the ABCC8 gene. This alteration results from a G to A substitution at nucleotide position 2030, causing the cysteine (C) at amino acid position 677 to be replaced by a tyrosine (Y). The alteration is rare in population databases:_x000D_ _x000D_ Based on data from the Genome Aggregation Database (gnomAD) database, the ABCC8 c.2030G>A alteration was observed in <0.001% (1/250,914) of total alleles studied. This amino acid position is not well conserved in available vertebrate species. The alteration is predicted tolerated by in silico modeling:_x000D_ _x000D_ The p.C677Y alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Fulgent Genetics, |
RCV005050771 | SCV005676376 | uncertain significance | Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus; Diabetes mellitus, permanent neonatal 3 | 2024-06-18 | criteria provided, single submitter | clinical testing |