ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.2094G>A (p.Gln698=)

dbSNP: rs782060744
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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 RCV001295680 SCV001484615 uncertain significance Dystonia 12 2020-10-01 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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 affects codon 698 of the ATP1A3 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ATP1A3 protein.

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