ClinVar Miner

Submissions for variant NM_000207.3(INS):c.127T>G (p.Cys43Gly)

dbSNP: rs80356666
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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 RCV003445080 SCV004174197 likely risk allele Type 2 diabetes mellitus criteria provided, single submitter research Potent mutations in theINS 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.Sufficient evidence is found to confer the association of this particular variant C43G/ rs80356666 with Diabetes mellitus.
OMIM RCV001089452 SCV000034566 pathogenic Diabetes mellitus, permanent neonatal 4 2007-09-18 no assertion criteria provided literature only
GeneReviews RCV000020204 SCV000040541 not provided Permanent neonatal diabetes mellitus no assertion provided literature only
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030069 SCV000052724 not provided Neonatal diabetes mellitus 2015-10-02 no assertion provided clinical testing
UniProtKB/Swiss-Prot RCV000020204 SCV000091149 not provided Permanent neonatal diabetes mellitus no assertion provided not provided

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