ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.2415C>A (p.Asp805Glu)

dbSNP: rs606231439
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV001808892 SCV002059125 likely pathogenic Developmental and epileptic encephalopathy 99 2022-01-03 criteria provided, single submitter clinical testing Same nucleotide change resulting in same amino acid change has been previously reported to be associated with ATP1A3 related disorder (ClinVar ID: VCV000161141, PMID:24523486, PS1_P). A different missense change at the same codon has been reported to be associated with ATP1A3 related disorder (PMID:24842602,25996915, PM5_P). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.949, 3CNET: 0.987, PP3_P). A missense variant is a common mechanism associated with Developmental and epileptic encephalopathy 99 (PP2_P). It is not observed in the gnomAD v2.1.1 dataset (PM2_M). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.

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