ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.835del (p.Arg279fs)

dbSNP: rs1558005340
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008258 SCV001168024 pathogenic not provided 2022-03-04 criteria provided, single submitter clinical testing Frameshift 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: 30690204, 33880529)
Mendelics RCV000761210 SCV000844968 likely pathogenic Epilepsy; Abnormality of neuronal migration; Arthrogryposis multiplex congenita; Hydrops fetalis 2017-08-03 no assertion criteria provided clinical testing
OMIM RCV001777176 SCV002014585 pathogenic Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies 2021-11-10 no assertion criteria provided literature only

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