ClinVar Miner

Submissions for variant NM_000207.3(INS):c.323A>G (p.Tyr108Cys)

dbSNP: rs80356672
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV003389036 SCV004041823 likely risk allele 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. It may have poor response to sulfonylureas, as mutations in this gene can cause beta cell destruction. rs80356672 variant can affect insulin biosynthesis and could be a contributing factor to the increased risk of diabetes. However, the role of this particular variant in diabetes patients is yet to be ascertained
GeneReviews RCV000020210 SCV000040547 not provided Permanent neonatal diabetes mellitus no assertion provided literature only
UniProtKB/Swiss-Prot RCV000020210 SCV000091164 not provided Permanent neonatal diabetes mellitus no assertion provided not provided

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