ClinVar Miner

Submissions for variant NM_000525.4(KCNJ11):c.678C>T (p.Pro226=)

gnomAD frequency: 0.00109  dbSNP: rs74162102
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724762 SCV000224242 uncertain significance not provided 2015-04-23 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000173150 SCV000595315 likely benign not specified 2015-12-24 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000173150 SCV000613865 likely benign not specified 2017-06-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000724762 SCV001065378 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002362890 SCV002661802 likely benign Inborn genetic diseases 2022-05-02 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV003884372 SCV004698177 likely benign Maturity-onset diabetes of the young type 13 criteria provided, single submitter research Potent 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 this particular variant rs74162102 in MODY yet.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000173150 SCV005076658 benign not specified 2024-04-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275134 SCV001459965 likely benign Permanent neonatal diabetes mellitus 2020-09-16 no assertion criteria provided clinical testing

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