ClinVar Miner

Submissions for variant NM_022089.4(ATP13A2):c.3535del (p.Pro1178_Leu1179insTer)

dbSNP: rs1570752813
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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 RCV000796179 SCV000935678 uncertain significance Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 2018-11-21 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the ATP13A2 gene (p.Leu1179*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 2 amino acids of the ATP13A2 protein. 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. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. 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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