ClinVar Miner

Submissions for variant NM_022089.4(ATP13A2):c.3153_3154CT[2] (p.Leu1053fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000818226 SCV000958827 pathogenic Parkinson disease 9; Spastic paraplegia 78, autosomal recessive 2018-09-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu1053Valfs*60) in the ATP13A2 gene. It is expected to result in an absent or disrupted protein product. 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. Loss-of-function variants in ATP13A2 are known to be pathogenic (PMID: 16964263, 21696388). For these reasons, this variant has been classified as Pathogenic.

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