ClinVar Miner

Submissions for variant NM_000525.4(KCNJ11):c.433G>T (p.Ala145Ser)

dbSNP: rs1490024562
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Total submissions: 2
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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, 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

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