ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.2977_2994del (p.Glu993_Ile998del)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002851186 SCV003217749 uncertain significance Dystonia 12 2022-06-26 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has been observed in individual(s) with clinical features of ATP1A3-related conditions (Invitae). This variant is not present in population databases (gnomAD no frequency). This variant, c.2977_2994del, results in the deletion of 6 amino acid(s) of the ATP1A3 protein (p.Glu993_Ile998del), but otherwise preserves the integrity of the reading frame.
Baylor Genetics RCV002851186 SCV003835276 uncertain significance Dystonia 12 2022-07-05 criteria provided, single submitter clinical testing

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