ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.129G>A (p.Lys43=)

gnomAD frequency: 0.00766  dbSNP: rs61734527
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000116447 SCV000167115 benign not specified 2012-11-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000226425 SCV000285579 benign Familial hemiplegic migraine 2021-12-16 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710687 SCV000840971 benign not provided 2018-02-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000226425 SCV000846456 benign Familial hemiplegic migraine 2016-05-02 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Genome-Nilou Lab RCV002259619 SCV002539675 benign Alternating hemiplegia of childhood 1 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259621 SCV002539676 benign Developmental and epileptic encephalopathy 98 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259620 SCV002539677 benign FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259618 SCV002539678 benign Migraine, familial hemiplegic, 2 2021-12-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000116447 SCV000150372 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000710687 SCV002035549 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000710687 SCV002037918 likely benign not provided no assertion criteria provided clinical testing

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