ClinVar Miner

Submissions for variant NM_022089.4(ATP13A2):c.816C>G (p.Cys272Trp)

gnomAD frequency: 0.00001  dbSNP: rs755969305
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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 RCV001045827 SCV001209701 uncertain significance Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 2019-12-13 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tryptophan at codon 272 of the ATP13A2 protein (p.Cys272Trp). The cysteine residue is weakly conserved and there is a large physicochemical difference between cysteine and tryptophan. This variant is present in population databases (rs755969305, ExAC 0.01%). This variant has not been reported in the literature in individuals with ATP13A2-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. 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: "Possibly Damaging"; Align-GVGD: "Class C0").

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