ClinVar Miner

Submissions for variant NM_000525.4(KCNJ11):c.157G>A (p.Gly53Ser)

dbSNP: rs80356613
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002226644 SCV002505427 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 rs35513985 variant in MODY yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002250456 SCV002520720 likely pathogenic Transitory neonatal 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 may be responsive to oral sulfonylureas. However, this particular variant (rs80356613) is associated with Neonatal diabetes mellitus.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002250455 SCV002520726 uncertain significance 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 may be responsive to oral sulfonylureas. However, this particular variant (rs80356613) is associated with Neonatal diabetes mellitus and its role in MODY remains uncertain.
OMIM RCV000009218 SCV000029436 pathogenic Diabetes mellitus, transient neonatal, 3 2005-04-01 no assertion criteria provided literature only
GeneReviews RCV000009218 SCV000040726 not provided Diabetes mellitus, transient neonatal, 3 no assertion provided literature only

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