ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2551C>T (p.Gln851Ter)

dbSNP: rs1600273534
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000996792 SCV001151717 likely pathogenic not provided 2017-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001050623 SCV001214741 pathogenic Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2024-10-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln852*) in the CACNA1A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CACNA1A are known to be pathogenic (PMID: 10371528, 19486177, 25735478, 27250579). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CACNA1A-related conditions. ClinVar contains an entry for this variant (Variation ID: 808476). For these reasons, this variant has been classified as Pathogenic.

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