ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.4291C>T (p.Arg1431Ter)

dbSNP: rs1568470104
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000685695 SCV000813187 pathogenic Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-03-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 565995). This premature translational stop signal has been observed in individual(s) with autosomal dominant episodic ataxia 2 (PMID: 30852237). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg1432*) 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).
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV002274087 SCV002558940 likely pathogenic Neurodevelopmental delay criteria provided, single submitter clinical testing

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