ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.2809del (p.Arg937fs)

dbSNP: rs1651974671
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine RCV001258054 SCV001434885 likely pathogenic Migraine, familial hemiplegic, 2; Alternating hemiplegia of childhood 2018-10-08 criteria provided, single submitter clinical testing The c.2809delC (p.Arg937Alafs*10) variant in the ATP1A2 gene is predicted to introduce a premature translation termination codon. Loss-of-function variants in ATP1A2 are known to be pathogenic (PMID: 18056581). This variant is not reported in gnomAD. Therefore, the c.2809delC (p.Arg937Alafs*10) variant in the ATP1A2 gene is classified as likely pathogenic.

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