ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.1654G>A (p.Glu552Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004818970 SCV005438984 uncertain significance Developmental and epileptic encephalopathy 99 criteria provided, single submitter clinical testing The missense c.1654G>Ap.Glu552Lys variant in ATP1A3 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Glu552Lys variant is present with allele frequency of 0.0004% in gnomAD Exomes. The p.Glu552Lys variant has not been submitted to the ClinVar database. Computational evidence Polyphen - Benign, SIFT - Tolerated and MutationTaster -Disease causing predicts conflicting evidence on protein structure and function for this variant. The reference amino acid at this position is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Glu at position 552 is changed to a Lys changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Variant of Uncertain Significance VUS.

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