Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001779455 | SCV002014864 | uncertain significance | not specified | 2021-10-11 | criteria provided, single submitter | clinical testing | Variant summary: ABCC8 c.806C>A (p.Ala269Asp) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 8e-06 in 251320 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.806C>A has been reported in the literature in two individuals affected with neonatal diabetes, and adult type 1 and type 2 diabetes (Vaxillaire_2007, Yu_2019, Bonnefond_2020), however, the mother of the neonatal case also carried the variant and had normal glucose tolerance (Vaxillaire_2007). These reports do not provide unequivocal conclusions about association of the variant with Neonatal Diabetes Mellitus/Maturity Onset Diabetes Of The Young. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance. |
| Fulgent Genetics, |
RCV002503257 | SCV002813382 | uncertain significance | Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus; Diabetes mellitus, permanent neonatal 3 | 2021-10-13 | criteria provided, single submitter | clinical testing |