ClinVar Miner

Submissions for variant NM_000525.4(KCNJ11):c.-134G>T

dbSNP: rs387906398
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002226639 SCV002505432 uncertain significance Maturity onset diabetes mellitus in young criteria provided, single submitter research 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 rs387906398 variant in MODY yet.
Labcorp Genetics (formerly Invitae), Labcorp RCV002512936 SCV003513807 uncertain significance not provided 2021-07-14 criteria provided, single submitter clinical testing This variant occurs in a non-coding region of the KCNJ11 gene. It does not change the encoded amino acid sequence of the KCNJ11 protein. This variant has been observed in individual(s) with hyperinsulinism (PMID: 15579781). ClinVar contains an entry for this variant (Variation ID: 8674). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this variant affects KCNJ11 protein function (PMID: 15579781). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004799736 SCV005421973 uncertain significance not specified 2024-10-28 criteria provided, single submitter clinical testing Variant summary: KCNJ11 c.-134G>T is located in the untranslated mRNA region upstream of the initiation codon. The variant was absent in 720856 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. While this variant has been cited by HGMD and reported with alternate/historical nomenclature as "+88g>t" (PMID: 15579781), we were unable to independently confirm the identity of the variant as c.-134G>T using available data. To our knowledge, no occurrence of c.-134G>T in individuals affected with Congenital Hyperinsulinism and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 8674). Based on the evidence outlined above, the variant was classified as uncertain significance.
OMIM RCV000009209 SCV000029427 pathogenic Hyperinsulinemic hypoglycemia, familial, 2 2004-12-01 no assertion criteria provided literature only

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