ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.1262G>A (p.Arg421Gln)

gnomAD frequency: 0.00014  dbSNP: rs139499540
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000463682 SCV000544730 likely benign Familial hemiplegic migraine 2023-10-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481395 SCV002787548 uncertain significance Alternating hemiplegia of childhood 1; Migraine, familial hemiplegic, 2; Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies; Developmental and epileptic encephalopathy 98 2022-02-11 criteria provided, single submitter clinical testing
GeneDx RCV003318577 SCV004022948 uncertain significance not provided 2023-06-28 criteria provided, single submitter clinical testing Observed in the heterozygous state in an individual with younger-onset apparently sporadic small vessel disease stroke (Tan et al., 2019); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 18184292, 31719132)

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