ClinVar Miner

Submissions for variant NM_022089.4(ATP13A2):c.212G>T (p.Trp71Leu)

gnomAD frequency: 0.00006  dbSNP: rs373607247
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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 RCV000804051 SCV000943943 uncertain significance Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 2022-07-23 criteria provided, single submitter clinical testing This sequence change replaces tryptophan, which is neutral and slightly polar, with leucine, which is neutral and non-polar, at codon 71 of the ATP13A2 protein (p.Trp71Leu). This variant is present in population databases (rs373607247, gnomAD 0.04%). This missense change has been observed in individual(s) with ATP13A2-related conditions (PMID: 29606608). ClinVar contains an entry for this variant (Variation ID: 649178). 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. 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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