ClinVar Miner

Submissions for variant NM_000525.4(KCNJ11):c.510G>C (p.Lys170Asn)

dbSNP: rs80356622
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics, Madras Diabetes Research Foundation RCV002051780 SCV002318395 likely pathogenic Neonatal diabetes mellitus criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002227027 SCV002506467 benign 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 and insulin sensitivity. However, no sufficient evidence is found to ascertain the role of this particular variant (rs80356622) in MODY yet.
OMIM RCV001089467 SCV000029425 pathogenic Diabetes mellitus, permanent neonatal 2 2005-01-01 no assertion criteria provided literature only
GeneReviews RCV000009207 SCV000040735 not provided Permanent neonatal diabetes mellitus no assertion provided literature only

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