Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000117279 | SCV000151453 | pathogenic | Type 1 diabetes mellitus 2 | 2013-11-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001775542 | SCV002013056 | pathogenic | not provided | 2021-08-31 | criteria provided, single submitter | clinical testing | Published functional studies suggest a damaging effect on protein function (Park et al., 2010); Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 18840770, 17855560, 26530398, 31605659, 20034470, 31365591, 27634015, 19900242, 18162506, 32041611, 32792356, 31264968, 19952343) |
Molecular Genetics, |
RCV000030072 | SCV002318416 | likely pathogenic | Neonatal diabetes mellitus | criteria provided, single submitter | clinical testing | ||
Clinical Genomics, |
RCV001089451 | SCV004174201 | uncertain significance | Diabetes mellitus, permanent neonatal 4 | 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.Sufficient evidence is found to confer the association of this particular variant G32S/rs80356664 with Neonatal diabetes. | |
Invitae | RCV001775542 | SCV004294055 | pathogenic | not provided | 2023-12-30 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 32 of the INS protein (p.Gly32Ser). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with autosomal dominant permanent neonatal diabetes mellitus (PMID: 17855560). In at least one individual the variant was observed to be de novo. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 21122). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects INS function (PMID: 19952343). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV001089451 | SCV000034565 | pathogenic | Diabetes mellitus, permanent neonatal 4 | 2007-09-18 | no assertion criteria provided | literature only | |
Gene |
RCV000020212 | SCV000040549 | not provided | Permanent neonatal diabetes mellitus | no assertion provided | literature only | ||
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000030072 | SCV000052727 | not provided | Neonatal diabetes mellitus | 2015-04-03 | no assertion provided | clinical testing | |
Uni |
RCV000020212 | SCV000091167 | not provided | Permanent neonatal diabetes mellitus | no assertion provided | not provided |