ClinVar Miner

Submissions for variant NM_000525.4(KCNJ11):c.989A>G (p.Tyr330Cys)

dbSNP: rs193929356
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146124 SCV000193341 pathogenic Neonatal insulin-dependent diabetes mellitus 2013-02-08 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002226652 SCV002505652 likely pathogenic 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. rs193929356 (c.989A>G, p.Y330C) of KCNJ11 is associated with early onset Type I Diabetes Mellitus.
Labcorp Genetics (formerly Invitae), Labcorp RCV003556059 SCV004295355 pathogenic not provided 2023-06-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt KCNJ11 protein function. ClinVar contains an entry for this variant (Variation ID: 21204). This missense change has been observed in individual(s) with early onset diabetes (PMID: 15448107, 29361385, 32792356). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 330 of the KCNJ11 protein (p.Tyr330Cys).
GeneReviews RCV000020361 SCV000040745 not provided Permanent neonatal diabetes mellitus no assertion provided literature only

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