ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.2224GAC[1] (p.Asp743del)

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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 RCV003074994 SCV003462408 pathogenic Dystonia 12 2022-02-07 criteria provided, single submitter clinical testing This variant, c.2227_2229del, results in the deletion of 1 amino acid(s) of the ATP1A3 protein (p.Asp743del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with alternating hemiplegia of childhood, dystonia, and/or epileptic encephalopathy (PMID: 29395663, 31737037; Invitae). In at least one individual the variant was observed to be de novo. This variant is also known as c.2266_2268delGAC, p.(D756del). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. For these reasons, this variant has been classified as Pathogenic.

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