ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.1781del (p.Lys594fs)

dbSNP: rs1600293149
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000991661 SCV001143312 pathogenic not provided 2018-10-04 criteria provided, single submitter clinical testing The variant results in a shift of the reading frame, and is therefore predicted to significantly disrupt the protein structure. Found in at least one symptomatic patient, and not found in general population data.

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