ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.803T>G (p.Ile268Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV004566570 SCV005049747 uncertain significance Migraine, familial hemiplegic, 2 2024-03-06 criteria provided, single submitter clinical testing
Undiagnosed Diseases Network, NIH RCV004566570 SCV005420967 uncertain significance Migraine, familial hemiplegic, 2 2024-03-06 criteria provided, single submitter clinical testing This variant has not been described in ClinVar, has not been observed in gnomAD, and has an inconclusive theoretical prediction score (CADD: 29.900). The evolutionary conservation of this residue is high. In this family, the variant was inherited from her father; both have hemiplegic migraines.

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