ClinVar Miner

Submissions for variant NM_000207.3(INS):c.174del (p.Glu59fs)

dbSNP: rs1845873878
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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 RCV002464402 SCV002605402 likely pathogenic 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 rs1845873878, yet.
Constantin Polychronakos Laboratory, The Research Institute of the McGill University Health Centre RCV001172535 SCV001250646 likely pathogenic Diabetes mellitus no assertion criteria provided research PVS1 PM2 PP3

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