ClinVar Miner

Submissions for variant NM_000340.2(SLC2A2):c.1077T>C (p.Leu359=)

gnomAD frequency: 0.00018  dbSNP: rs5408
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000610873 SCV000725307 likely benign not specified 2017-12-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002065425 SCV002370186 likely benign Fanconi-Bickel syndrome 2023-07-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498940 SCV002808293 likely benign Type 2 diabetes mellitus; Fanconi-Bickel syndrome 2022-02-11 criteria provided, single submitter clinical testing

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