ClinVar Miner

Submissions for variant NM_000525.4(KCNJ11):c.819C>T (p.Ser273=)

gnomAD frequency: 0.00001  dbSNP: rs202238153
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000975599 SCV001123487 likely benign not provided 2023-12-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001105474 SCV001262442 benign Diabetes mellitus, transient neonatal, 3 2017-05-31 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV001105475 SCV001262443 uncertain significance 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001105476 SCV001262444 uncertain significance 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV001105475 SCV004698176 likely benign Maturity-onset diabetes of the young type 13 criteria provided, single submitter research Potent mutations in KCNJ11 gene can cause decreased production and secretion of insulin. This can lead to MODY which may be responsive to oral sulfonylureas. It is also associated with Neonatal Diabetes. However, no sufficient evidence is found to ascertain the role of this particular variant rs202238153 in MODY yet.
Natera, Inc. RCV001273746 SCV001457226 uncertain significance Permanent neonatal diabetes mellitus 2020-04-13 no assertion criteria provided clinical testing

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