ClinVar Miner

Submissions for variant NM_000340.2(SLC2A2):c.1489_1490delinsAA (p.Ala497Lys) (rs1560031152)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000699759 SCV000828484 uncertain significance Fanconi-Bickel syndrome 2018-05-24 criteria provided, single submitter clinical testing This sequence change replaces alanine with lysine at codon 497 of the SLC2A2 protein (p.Ala497Lys). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and lysine. This variant is reported as two separate single-nucleotide changes in population databases (c.1489G>A, ExAC 0.09% and c.1490C>A, ExAC 0.09%). However, in the read data for 5 individuals displayed in the ExAC browser, these two variants are in cis. This recapitulates the variant observed here (c.1489_1490delGCinsAA) and indicates that this variant is very likely present in the population databases at 0.09%. This variant has not been reported in the literature in individuals with SLC2A2-related disease. 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"). 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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