Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics | RCV000516994 | SCV000614429 | uncertain significance | not specified | 2016-09-30 | criteria provided, single submitter | clinical testing | |
Personalized Diabetes Medicine Program, |
RCV001174446 | SCV001337585 | uncertain significance | Monogenic diabetes | 2018-03-07 | criteria provided, single submitter | research | ACMG criteria: PP3 (3 predictors), BP4 (8 predictors), PM2 (absent in database), NOTE: Athena calls VUS=VUS |
Fulgent Genetics, |
RCV002481677 | SCV002780358 | uncertain significance | Maturity-onset diabetes of the young type 4; Pancreatic agenesis 1; Type 2 diabetes mellitus | 2021-11-03 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004553135 | SCV004107496 | uncertain significance | PDX1-related disorder | 2023-08-03 | criteria provided, single submitter | clinical testing | The PDX1 c.719C>G variant is predicted to result in the amino acid substitution p.Pro240Arg. This variant was reported in an individual with type 1 diabetes (Supplemental Table 7, Yu et al 2019. PubMed ID: 31264968). This variant is reported in 0.0063% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/13-28498705-C-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Labcorp Genetics |
RCV003727759 | SCV004537107 | uncertain significance | not provided | 2023-08-07 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 447926). This missense change has been observed in individual(s) with type 1 diabetes (PMID: 31264968). This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 240 of the PDX1 protein (p.Pro240Arg). |