ClinVar Miner

Submissions for variant NM_000207.3(INS):c.130_144del (p.Gly44_Phe48del)

dbSNP: rs1554920854
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517956 SCV000613772 uncertain significance not specified 2016-12-06 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002464240 SCV002605407 likely benign Neonatal insulin-dependent diabetes mellitus criteria provided, single submitter research Mutations in INS gene can cause early onset diabetes mellitus which is insulin dependent. May have poor response to sulfonylureas, as this mutation can cause beta cell destruction. However no sufficient evidence is found to ascertain the role of this particular variant rs1554920854, yet.

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