Submissions for variant NM_000207.3(INS):c.287G>A (p.Cys96Tyr)

dbSNP: rs80356671

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics Inc	RCV000517445	SCV000613774	pathogenic	not provided	2014-06-18	criteria provided, single submitter	clinical testing
Molecular Genetics, Madras Diabetes Research Foundation	RCV002051784	SCV002318420	likely pathogenic	Neonatal diabetes mellitus		criteria provided, single submitter	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV001089454	SCV004041827	uncertain significance	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. rs80356671 variant is Prevalent in patients with Permanent neonatal diabetes mellitus.However, the role of this particular variant is yet to be ascertained
OMIM	RCV001089454	SCV000034568	pathogenic	Diabetes mellitus, permanent neonatal 4	2008-04-01	no assertion criteria provided	literature only
GeneReviews	RCV000014319	SCV000040546	not provided	Permanent neonatal diabetes mellitus		no assertion provided	literature only
UniProtKB/Swiss-Prot	RCV000014319	SCV000091160	not provided	Permanent neonatal diabetes mellitus		no assertion provided	not provided