Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Personalized Diabetes Medicine Program, |
RCV000445382 | SCV000536999 | uncertain significance | Monogenic diabetes | 2016-02-12 | criteria provided, single submitter | research | ACMG Criteria: PS3 (PMID:8027028), PP3, BP4 |
Fulgent Genetics, |
RCV002476985 | SCV002793840 | uncertain significance | Type 2 diabetes mellitus; Fanconi-Bickel syndrome | 2022-05-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002513076 | SCV003525678 | uncertain significance | Fanconi-Bickel syndrome | 2022-01-15 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 197 of the SLC2A2 protein (p.Val197Ile). This variant is present in population databases (rs121909741, gnomAD 0.04%). This missense change has been observed in individual(s) with diabetes mellitus (PMID: 8063045). ClinVar contains an entry for this variant (Variation ID: 16090). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Experimental studies have shown that this missense change affects SLC2A2 function (PMID: 8027028). 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. |
OMIM | RCV000017470 | SCV000037742 | risk factor | Diabetes mellitus type 2, susceptibility to | 2002-01-01 | no assertion criteria provided | literature only |