Submission Details

The SLC13A3 gene was first reported in relation to autosomal recessive leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate in 2019 (30635937: Dewulf et al. 2019). At least three unique variants have been reported in two unrelated individuals with the disease, including one missense variant found in a homozygous state, and another missense variant and a splice region variant found in a compound heterozygous state (30635937: Dewulf et al. 2019). Evidence supporting this gene-disease relationship includes case-level data, case-control data, and experimental data. The mechanism of disease is unknown. This gene-disease relationship is supported by expression studies and in vitro functional assays ( 27053689: Breljak et al. 2016; 30635937: Dewulf et al. 2019). In summary, there is limited evidence to support this gene-disease relationship. Although more evidence is needed to support a causal role, no convincing evidence has emerged that contradicts the gene-disease relationship.

PubMed IDs:

30635937 27053689

Assertion Criteria:

Click here to view assertion criteria

https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf

Submitter Submitted Date:

10/15/2020

The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).

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