ClinVar Miner

Submissions for variant NM_022089.4(ATP13A2):c.859G>A (p.Asp287Asn) (rs764560082)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000850229 SCV000965688 uncertain significance Kufor-Rakeb syndrome 2019-07-02 criteria provided, single submitter clinical testing A heterozygous variant c.859G>A (p.Asp287Asn) in Exon-10 has been observed in the ATP13A2 gene. The proband, born of a non-consanguineous marriage, presented with clinical indications of epilepsy at 2.5 years of age, torticollis, no speech, stiffness in lower limbs and dystonia. Her brain MRI showed moderate mineral deposition in striatonigral pathway on SWI, mild cerebral and moderate crebellar atrophic changes. The patient in our clinical analysis was observed with the said variant in an autosomal recessive mode of inheritance. In two unrelated Italian patients with early-onset parkinsonism at age 30 and 40 years respectively, heterozygous mutation in ATP13A2 gene has been reported, suggesting that heterozygous mutation may increase the risk for development of the disease. The variant has not been reported in the 1000 genomes database and in the ExAC database. The in silico prediction of the variant is damaging by LRT. In summary, the said variant meets our criteria to be classified as uncertain significance based on the mode of inheritance, in silico prediction, allele frequency in population databases and lack of segregation study.

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