ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.1547C>T (p.Ser516Phe)

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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 RCV005208301 SCV005849273 uncertain significance Developmental and epileptic encephalopathy 98 2023-06-22 criteria provided, single submitter clinical testing The observed missense variant c.1547C>T(p.Ser516Phe) in the ATP1A2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is absent in the gnomAD Exomes. The amino acid Ser at position 516 is changed to a Phe changing protein sequence and it might alter its composition and physico-chemical properties. Multiple lines of computational evidence (Polyphen - Damaging, SIFT - Damaging and MutationTaster - Disease causing) predict a damaging effect on protein structure and function for this variant. The residue is conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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