ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6234C>T (p.Ser2078=)

gnomAD frequency: 0.00002  dbSNP: rs758320697
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000611064 SCV000716508 likely benign not specified 2017-03-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000819435 SCV000960095 uncertain significance Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-12-12 criteria provided, single submitter clinical testing This sequence change affects codon 2079 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 present in population databases (rs758320697, gnomAD 0.02%). 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: 507794). 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.

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