ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6202C>T (p.Arg2068Ter)

dbSNP: rs779221807
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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 RCV000707561 SCV000836662 pathogenic Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2022-03-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 583270). This premature translational stop signal has been observed in individual(s) with clinical features of CACNA1A-related conditions (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg2069*) 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).
CeGaT Center for Human Genetics Tuebingen RCV001092214 SCV001248618 pathogenic not provided 2019-08-01 criteria provided, single submitter clinical testing

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