ClinVar Miner

Submissions for variant NM_000525.4(KCNJ11):c.36C>A (p.Tyr12Ter)

dbSNP: rs104894236
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001851756 SCV002179736 pathogenic not provided 2021-03-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Tyr12*) in the KCNJ11 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 379 amino acid(s) of the KCNJ11 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with congenital hyperinsulinism (PMID: 9356020). ClinVar contains an entry for this variant (Variation ID: 8673). Experimental studies have shown that this variant affects KCNJ11 protein function (PMID: 9356020, 20694718).
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002227028 SCV002505941 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 is responsive to oral sulfonylureas. However, No sufficient evidence is found to ascertain the role of this particular variant (rs104894236) in MODY.
OMIM RCV000009208 SCV000029426 pathogenic Hyperinsulinemic hypoglycemia, familial, 2 1997-11-01 no assertion criteria provided literature only

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