Submissions for variant NM_000207.3(INS):c.36G>A (p.Ala12=)

gnomAD frequency: 0.01335  dbSNP: rs3842744

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000383778	SCV000369891	likely benign	Maturity onset diabetes mellitus in young	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000270633	SCV000369892	likely benign	Transient Neonatal Diabetes, Dominant/Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000361123	SCV000483262	likely benign	Autosomal recessive DOPA responsive dystonia	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000973456	SCV001121214	benign	not provided	2024-01-25	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001108483	SCV001265718	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.
GeneDx	RCV000973456	SCV001832187	benign	not provided	2020-01-29	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27279137, 18162506)
Fulgent Genetics, Fulgent Genetics	RCV002494953	SCV002803580	benign	Type 1 diabetes mellitus 2; Maturity-onset diabetes of the young type 10; Hyperproinsulinemia; Diabetes mellitus, permanent neonatal 4	2021-07-20	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000973456	SCV004562335	benign	not provided	2023-11-06	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000973456	SCV005223144	likely benign	not provided		criteria provided, single submitter	not provided
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002221524	SCV002498768	uncertain significance	Neonatal insulin-dependent diabetes mellitus		no assertion criteria provided	research	Mutations in INS gene generally cause early onset diabetes mellitus which is insulin dependent. But , No strong association of rs3842744 was seen in Diabetes Mellitus.