ClinVar Miner

Submissions for variant NM_022089.4(ATP13A2):c.2127-2_2127-1delinsCC

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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 RCV002847403 SCV003227403 likely pathogenic Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 2023-05-22 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ATP13A2-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change affects a splice site in intron 19 of the ATP13A2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ATP13A2 are known to be pathogenic (PMID: 16964263, 21696388). ClinVar contains an entry for this variant (Variation ID: 2021946). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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