ClinVar Miner

Submissions for variant NM_022089.4(ATP13A2):c.3476T>C (p.Phe1159Ser)

dbSNP: rs1553164387
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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 RCV000641066 SCV000762684 uncertain significance Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 2017-11-27 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with serine at codon 1159 of the ATP13A2 protein (p.Phe1159Ser). The phenylalanine residue is weakly conserved and there is a large physicochemical difference between phenylalanine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ATP13A2-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; 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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