ClinVar Miner

Submissions for variant NM_000340.2(SLC2A2):c.559G>A (p.Ala187Thr)

dbSNP: rs200213178
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002045909 SCV002302744 uncertain significance Fanconi-Bickel syndrome 2020-12-30 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This sequence change replaces alanine with threonine at codon 187 of the SLC2A2 protein (p.Ala187Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs200213178, ExAC 0.01%). This variant has not been reported in the literature in individuals with SLC2A2-related conditions. 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.

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