ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.1477C>T (p.Arg493Ter)

dbSNP: rs534696343
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV003595849 SCV004263874 likely pathogenic Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies 2024-02-09 criteria provided, single submitter clinical testing
GeneDx RCV004593377 SCV005078276 likely pathogenic not provided 2023-10-19 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); Has not been previously published as pathogenic or benign in association with neurodevelopmental disorders to our knowledge; This variant is associated with the following publications: (PMID: 24463508)

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