ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.5401-3C>T

gnomAD frequency: 0.00004  dbSNP: rs375947967
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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 RCV001314022 SCV001504536 uncertain significance Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-01-26 criteria provided, single submitter clinical testing 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 1015196). This variant has not been reported in the literature in individuals affected with CACNA1A-related conditions. This variant is present in population databases (rs375947967, gnomAD 0.03%). This sequence change falls in intron 35 of the CACNA1A gene. It does not directly change the encoded amino acid sequence of the CACNA1A protein. It affects a nucleotide within the consensus splice site.
GeneDx RCV001540441 SCV001758329 likely benign not provided 2020-07-01 criteria provided, single submitter clinical testing

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