ClinVar Miner

Submissions for variant NM_000207.3(INS):c.3G>A (p.Met1Ile)

dbSNP: rs397515521
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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 RCV003445477 SCV004174209 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.However, more evidence is required to confer the association of this particular variant c.3G > A/rs397515521 with Permanent neonatal diabetes mellitus(PNDM).
GeneReviews RCV000055791 SCV000086757 not provided Permanent neonatal diabetes mellitus no assertion provided literature only

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