ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.1995G>A (p.Thr665=) (rs376641545)

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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 Inc RCV000991662 SCV001143314 benign not provided 2018-10-26 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000991662 SCV001248628 likely benign not provided 2019-10-01 criteria provided, single submitter clinical testing
Invitae RCV001326079 SCV001517093 uncertain significance Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42 2020-06-19 criteria provided, single submitter clinical testing This sequence change affects codon 666 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 (rs376641545, ExAC 0.04%). This variant has not been reported in the literature in individuals with CACNA1A-related conditions. ClinVar contains an entry for this variant (Variation ID: 804598). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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