ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2188G>T (p.Glu730Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004724401 SCV005340525 likely pathogenic CACNA1A-related disorder 2024-06-08 no assertion criteria provided clinical testing The CACNA1A c.2188G>T variant is predicted to result in premature protein termination (p.Glu730*). To our knowledge, this variant has not been reported in the literature or in gnomAD, indicating this variant is rare. Nonsense variants in CACNA1A are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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