ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.809G>A (p.Gly270Asp)

dbSNP: rs1555864875
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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 RCV001894190 SCV002125784 uncertain significance Dystonia 12 2021-01-01 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 expected to disrupt ATP1A3 protein function. This variant has not been reported in the literature in individuals with ATP1A3-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with aspartic acid at codon 270 of the ATP1A3 protein (p.Gly270Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid.

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