ClinVar Miner

Submissions for variant NM_000340.2(SLC2A2):c.589G>A (p.Val197Ile)

gnomAD frequency: 0.00009  dbSNP: rs121909741
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Personalized Diabetes Medicine Program, University of Maryland School of Medicine RCV000445382 SCV000536999 uncertain significance Monogenic diabetes 2016-02-12 criteria provided, single submitter research ACMG Criteria: PS3 (PMID:8027028), PP3, BP4
Fulgent Genetics, 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

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