ClinVar Miner

Submissions for variant NM_022089.4(ATP13A2):c.3040G>A (p.Gly1014Ser)

gnomAD frequency: 0.00013  dbSNP: rs202166353
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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 RCV001312911 SCV001503384 uncertain significance Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 2024-10-24 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1014 of the ATP13A2 protein (p.Gly1014Ser). This variant is present in population databases (rs202166353, gnomAD 0.04%). This missense change has been observed in individual(s) with Parkinson disease (PMID: 21714071, 36879366). ClinVar contains an entry for this variant (Variation ID: 1014208). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt ATP13A2 protein function with a negative predictive value of 80%. 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.
Baylor Genetics RCV001333122 SCV001525615 uncertain significance Kufor-Rakeb syndrome 2018-06-19 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV001312911 SCV002785865 uncertain significance Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 2021-09-21 criteria provided, single submitter clinical testing

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