ClinVar Miner

Submissions for variant NM_022089.4(ATP13A2):c.2158G>T (p.Gly720Trp)

gnomAD frequency: 0.00001  dbSNP: rs865939676
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000641067 SCV000762685 uncertain significance Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces glycine with tryptophan at codon 720 of the ATP13A2 protein (p.Gly720Trp). The glycine residue is highly conserved and there is a large physicochemical difference between glycine and tryptophan. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with ATP13A2-related conditions. 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 disruptive. 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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