ClinVar Miner

Submissions for variant NM_000525.4(KCNJ11):c.*215C>T

gnomAD frequency: 0.44390  dbSNP: rs5210
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV001523527 SCV005221356 likely benign not provided criteria provided, single submitter not provided
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002226705 SCV002505446 benign Type 2 diabetes mellitus criteria provided, single submitter research Mutations in KCNJ11 gene can cause decreased production and secretion of insulin. This can lead to MODY which is responsive to oral sulfonylureas. rs5210 variant of KCNJ11 is associated with increased T2D risk.
Labcorp Genetics (formerly Invitae), Labcorp RCV001523527 SCV001733241 benign not provided 2025-06-03 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000395953 SCV000369130 likely benign Hyperinsulinemic hypoglycemia, familial, 2 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000348877 SCV000369129 likely benign Maturity-onset diabetes of the young type 13 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000293997 SCV000369128 likely benign Diabetes mellitus, transient neonatal, 3 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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