ClinVar Miner

Submissions for variant NM_000207.3(INS):c.187+241G>A

dbSNP: rs886041083
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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 RCV000258877 SCV004174217 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. c.187+241G>A (rs886041083) is a intronic variant seen to be associated with Neonatal diabetes.
OMIM RCV000258877 SCV000328652 pathogenic Diabetes mellitus, permanent neonatal 4 2020-12-01 no assertion criteria provided literature only

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