ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3134C>G (p.Ser1045Ter)

dbSNP: rs2144889289
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002052088 SCV002318523 likely pathogenic Developmental and epileptic encephalopathy, 42 2022-03-22 criteria provided, single submitter clinical testing Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant.It is not observed in the gnomAD v2.1.1 dataset. Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.

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