ClinVar Miner

Submissions for variant NM_022089.4(ATP13A2):c.409del (p.Val137fs)

dbSNP: rs2077487643
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001066185 SCV001231187 pathogenic Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 2022-07-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 859962). This variant has not been reported in the literature in individuals affected with ATP13A2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val137Tyrfs*19) in the ATP13A2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATP13A2 are known to be pathogenic (PMID: 16964263, 21696388).

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