ClinVar Miner

Submissions for variant NM_000525.4(KCNJ11):c.973C>T (p.Arg325Cys)

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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 RCV002694044 SCV003729830 uncertain significance Inborn genetic diseases 2022-01-13 criteria provided, single submitter clinical testing The c.973C>T (p.R325C) alteration is located in exon 1 (coding exon 1) of the KCNJ11 gene. This alteration results from a C to T substitution at nucleotide position 973, causing the arginine (R) at amino acid position 325 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005047383 SCV005676602 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 2024-06-06 criteria provided, single submitter clinical testing

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