ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.1761T>C (p.Ser587=)

gnomAD frequency: 0.00006  dbSNP: rs199621678
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001705549 SCV000512194 likely benign not provided 2019-04-24 criteria provided, single submitter clinical testing
Invitae RCV000473200 SCV000556865 benign Familial hemiplegic migraine 2024-01-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002318377 SCV000850982 likely benign Inborn genetic diseases 2016-04-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Genome-Nilou Lab RCV002259938 SCV002539790 benign Alternating hemiplegia of childhood 1 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259940 SCV002539791 benign Developmental and epileptic encephalopathy 98 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259939 SCV002539792 benign Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259937 SCV002539793 benign Migraine, familial hemiplegic, 2 2021-12-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003972570 SCV004794863 likely benign ATP1A2-related condition 2021-12-23 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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