ClinVar Miner

Submissions for variant NM_022089.4(ATP13A2):c.3206C>A (p.Ala1069Glu)

dbSNP: rs764988645
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001978700 SCV002209979 uncertain significance Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 2021-12-01 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 affected with ATP13A2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 1069 of the ATP13A2 protein (p.Ala1069Glu).
Ambry Genetics RCV002562199 SCV003647717 uncertain significance Inborn genetic diseases 2022-10-27 criteria provided, single submitter clinical testing The c.3206C>A (p.A1069E) alteration is located in exon 27 (coding exon 27) of the ATP13A2 gene. This alteration results from a C to A substitution at nucleotide position 3206, causing the alanine (A) at amino acid position 1069 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV003481209 SCV004227777 uncertain significance not provided 2023-06-02 criteria provided, single submitter clinical testing BP4, PM2

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