ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3822C>T (p.Asn1274=)

gnomAD frequency: 0.00021  dbSNP: rs201230929
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000710954 SCV000524847 likely benign not provided 2020-09-17 criteria provided, single submitter clinical testing
Invitae RCV000697189 SCV000825786 uncertain significance Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-12-11 criteria provided, single submitter clinical testing This sequence change affects codon 1275 of the CACNA1A mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CACNA1A protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs201230929, gnomAD 0.07%), and has an allele count higher than expected for a pathogenic variant. 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: 384147). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
Athena Diagnostics Inc RCV000710954 SCV000841269 benign not provided 2018-02-13 criteria provided, single submitter clinical testing

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