ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.2869G>T (p.Glu957Ter)

dbSNP: rs1558010146
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV000754579 SCV000787762 pathogenic Polymicrogyria 2018-07-25 criteria provided, single submitter clinical testing Truncating homozygous variation in a gene for which knocked out mice presents highly similar phenotypic presentation.
GeneDx RCV003332220 SCV004039874 pathogenic not provided 2023-03-30 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25047116, 31608932)
OMIM RCV001777172 SCV002014587 pathogenic Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies 2021-11-10 no assertion criteria provided literature only

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