ClinVar Miner

Submissions for variant NM_022089.4(ATP13A2):c.1170C>A (p.His390Gln)

dbSNP: rs201661480
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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 RCV002021818 SCV002227633 uncertain significance Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 2021-03-04 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with ATP13A2-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ATP13A2 protein function. This variant is not present in population databases (ExAC no frequency). 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. This sequence change replaces histidine with glutamine at codon 390 of the ATP13A2 protein (p.His390Gln). The histidine residue is weakly conserved and there is a small physicochemical difference between histidine and glutamine.

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