ClinVar Miner

Submissions for variant NM_000207.3(INS):c.250G>A (p.Gly84Arg)

dbSNP: rs121908274
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV003445479 SCV004174215 uncertain significance Diabetes mellitus, permanent neonatal 4 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.G84R/ rs121908274 variant is Prevalent in patients with Permanent neonatal diabetes mellitus.However, the role of this particular variant is yet to be ascertained
UniProtKB/Swiss-Prot RCV000059611 SCV000091157 not provided Permanent neonatal diabetes mellitus no assertion provided not provided

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