ClinVar Miner

Submissions for variant NM_022089.4(ATP13A2):c.2146del (p.Asp715_Leu716insTer)

dbSNP: rs2100768788
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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 RCV001388839 SCV001589989 pathogenic Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 2020-02-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ATP13A2 are known to be pathogenic (PMID: 16964263, 21696388). This variant has not been reported in the literature in individuals with ATP13A2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu716*) in the ATP13A2 gene. It is expected to result in an absent or disrupted protein product.

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