ClinVar Miner

Submissions for variant NM_000207.3(INS):c.130G>A (p.Gly44Arg)

gnomAD frequency: 0.00003  dbSNP: rs765512575
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000304558 SCV000369887 benign Transient Neonatal Diabetes, Dominant/Recessive 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.
Illumina Laboratory Services, Illumina RCV000359349 SCV000369888 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx RCV001544982 SCV001764217 uncertain significance not provided 2019-08-15 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 33046911, 32034745, 27913849, 28095440, 24097065)
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV000359349 SCV004174196 uncertain significance Maturity-onset diabetes of the young type 10 criteria provided, single submitter research Potent mutations in the INS gene can cause early onset diabetes mellitus which is insulin dependent. May have poor response to sulfonylureas, mutations in this gene can cause beta cell destruction.However, though the prevalence of p.Gly44Arg/rs765512575 in Maturity onset diabetes of the young is seen, there is no sufficient evidence to show the association of this variant with neonatal diabetes or MODY.

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