ClinVar Miner

Submissions for variant NM_000207.3(INS):c.302C>G (p.Ser101Cys)

dbSNP: rs121908276
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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 RCV003389038 SCV004041826 likely risk allele Diabetes mellitus, permanent neonatal 4 criteria provided, single submitter research Potent mutations in 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. However, more evidence is required to confer the association of this particular variant rs121908276 with permanent neonatal diabetes mellitus.
UniProtKB/Swiss-Prot RCV000059613 SCV000091162 not provided Permanent neonatal diabetes mellitus no assertion provided not provided

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