Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| New York Genome Center | RCV003228607 | SCV003925201 | uncertain significance | Hyperinsulinemic hypoglycemia, familial, 1 | 2022-06-23 | criteria provided, single submitter | clinical testing | The c.3928G>T variant in ABCC8 has not previously been reported in the literature or public variant repositories (ClinVar and LOVD). The c.3928G>T variant is observed in 5 alleles (~0.001% minor allele frequency with 0 homozygotes) in population databases (gnomAD v2.1.1 and v3.1.2, TOPMed Freeze 8), suggesting it is not a common benign variant in the populations represented in those databases. The c.3928G>T variant in ABCC8 is located in exon 32 of this 39-exon gene, and is predicted to replace an evolutionarily conserved alanine amino acid with serine at position 1310 (p.(Ala1310Ser)) in the last cytoplasmic domain of the encoded protein.In silico predictions are not in favor of damaging effect for the p.(Ala1310Ser) variant [CADD v1.6 = 19.68, REVEL = 0.436]; however, there are no functional studies to support or refute these predictions. Based on available evidence this c.3928G>T p.(Ala1310Ser) variant identified in ABCC8 is classified as a Variant of Uncertain Significance. |
| Fulgent Genetics, |
RCV005047473 | SCV005681076 | uncertain significance | Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus; Diabetes mellitus, permanent neonatal 3 | 2024-04-30 | criteria provided, single submitter | clinical testing |