ClinVar Miner

Submissions for variant NM_022089.4(ATP13A2):c.2905G>A (p.Val969Ile)

gnomAD frequency: 0.00001  dbSNP: rs769445714
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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 RCV002006337 SCV002269557 uncertain significance Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 2021-05-09 criteria provided, single submitter clinical testing 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. 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 has not been reported in the literature in individuals with ATP13A2-related conditions. This variant is present in population databases (rs769445714, ExAC 0.002%). This sequence change replaces valine with isoleucine at codon 969 of the ATP13A2 protein (p.Val969Ile). The valine residue is weakly conserved and there is a small physicochemical difference between valine and isoleucine.

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