ClinVar Miner

Submissions for variant NM_000207.2(INS):c.-139A>G

gnomAD frequency: 0.00080  dbSNP: rs571342427
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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 RCV000501794 SCV000595239 uncertain significance not specified 2017-02-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002056851 SCV002444852 likely benign not provided 2024-01-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002056851 SCV002585265 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing INS: BP5, BS1
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV003446093 SCV004174211 likely benign Type 2 diabetes mellitus criteria provided, single submitter research Potent mutations in the INS gene can cause early onset diabetes mellitus which is insulin dependent. May have poor response to sulfonylureas, mutations in this gene can cause beta cell destruction.Though rs571342427 is prevalent in Type Il Diabetes Mellitus cases, more evidence is required to ascertain the significance.

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