ClinVar Miner

Submissions for variant NM_022089.4(ATP13A2):c.1243C>A (p.Arg415=)

dbSNP: rs768796427
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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 RCV003063258 SCV003455001 uncertain significance Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 2022-03-09 criteria provided, single submitter clinical testing This sequence change affects codon 415 of the ATP13A2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ATP13A2 protein. This variant is present in population databases (rs768796427, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with ATP13A2-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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