ClinVar Miner

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

gnomAD frequency: 0.59307  dbSNP: rs3842753
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Total submissions: 11
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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 .
Breakthrough Genomics, Breakthrough Genomics RCV001712011 SCV005321275 benign not provided criteria provided, single submitter not provided

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