Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004518660 | SCV005035869 | uncertain significance | Inborn genetic diseases | 2024-02-16 | criteria provided, single submitter | clinical testing | The p.A145S variant (also known as c.433G>T), located in coding exon 1 of the KCNJ11 gene, results from a G to T substitution at nucleotide position 433. The alanine at codon 145 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear. |
Fulgent Genetics, |
RCV005051451 | SCV005676621 | uncertain significance | Diabetes mellitus, transient neonatal, 3; Hyperinsulinemic hypoglycemia, familial, 2; Type 2 diabetes mellitus; Maturity-onset diabetes of the young type 13; Diabetes mellitus, permanent neonatal 2 | 2024-01-21 | criteria provided, single submitter | clinical testing |