Submissions for variant NM_000207.3(INS):c.*22A>C

gnomAD frequency: 0.59307  dbSNP: rs3842753

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000320451	SCV000369873	benign	Maturity onset diabetes mellitus in young	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000384319	SCV000369874	benign	Transient Neonatal Diabetes, Dominant/Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000346143	SCV000483259	benign	Autosomal recessive DOPA responsive dystonia	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001103213	SCV001259939	benign	Maturity-onset diabetes of the young type 10	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Genome-Nilou Lab	RCV001544276	SCV001763285	benign	Type 1 diabetes mellitus 2	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001544277	SCV001763286	benign	Diabetes mellitus, permanent neonatal 4	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001544278	SCV001763287	benign	Hyperproinsulinemia	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001103213	SCV001763288	benign	Maturity-onset diabetes of the young type 10	2021-07-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001712011	SCV001945011	benign	not provided	2019-03-31	criteria provided, single submitter	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV003388579	SCV004041822	uncertain significance	Diabetes mellitus type 1		criteria provided, single submitter	research	Potent mutations in this gene can cause early onset diabetes mellitus which is insulin dependent. May have poor response to sulfonylureas, as potent mutations in INS gene can cause beta cell destruction. rs3842753 variant, could be a contributing factor to the increased risk of T1D development, as it might increase insulin production. However more evidence are required to ascertain the role of this particular variant rs3842753 in Type 1 diabetes mellitus .