ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2088G>A (p.Leu696=)

dbSNP: rs908321451
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000516690 SCV000612514 uncertain significance not specified 2016-08-17 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224304 SCV003920646 uncertain significance Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42 2021-03-30 criteria provided, single submitter clinical testing CACNA1A NM_001127222.1 exon 16 p.Leu696= (c.2088G>A): This variant has not been reported in the literature and is not present in large control databases. This variant is present in ClinVar (Variation ID:446906). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV003766908 SCV004574606 uncertain significance Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-09-07 criteria provided, single submitter clinical testing This sequence change affects codon 697 of the CACNA1A mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CACNA1A protein. 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: 446906). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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