ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.588C>T (p.Arg196=)

gnomAD frequency: 0.00001  dbSNP: rs533663836
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001665510 SCV001880096 benign not specified 2020-11-12 criteria provided, single submitter clinical testing
GeneDx RCV001785830 SCV002028141 likely benign not provided 2021-05-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002073110 SCV002394250 likely benign Familial hemiplegic migraine 2023-10-13 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260272 SCV002539711 benign Alternating hemiplegia of childhood 1 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260274 SCV002539712 benign Developmental and epileptic encephalopathy 98 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260273 SCV002539713 benign Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260271 SCV002539714 benign Migraine, familial hemiplegic, 2 2021-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002359213 SCV002653592 likely benign Inborn genetic diseases 2020-04-07 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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