ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.2752GTC[1] (p.Val919del)

dbSNP: rs606231443
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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 RCV000818134 SCV000958731 pathogenic Dystonia 12 2022-02-11 criteria provided, single submitter clinical testing This variant, c.2755_2757del, results in the deletion of 1 amino acid(s) of the ATP1A3 protein (p.Val919del), but otherwise preserves the integrity of the reading frame. For these reasons, this variant has been classified as Pathogenic. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 161147). This variant has been observed in individual(s) with alternating hemiplegia of childhood (PMID: 22842232; Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency).
Neuberg Centre For Genomic Medicine, NCGM RCV004576923 SCV005060906 likely pathogenic Developmental and epileptic encephalopathy 99 criteria provided, single submitter clinical testing The observed inframe c.2755_2757del(p.Val919del) variant in ATP1A3 gene has been reported in an individual affected with ATP1A3 related disease (Heinzen EL, et. al., 2012). The p.Val919del variant is absent in gnomAD Exomes. This variant has been submitted to the ClinVar database as Pathogenic. This p.Val919del causes deletion of amino acid Valine at position 919. Additional functional studies are required to prove pathogenicity of the variant. For these reasons, this variant has been classified as Likely Pathogenic.

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