ClinVar Miner

Submissions for variant NM_000722.4(CACNA2D1):c.2721A>G (p.Ala907=)

dbSNP: rs758369222
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV000790447 SCV000929774 uncertain significance Short QT syndrome 2018-12-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002535817 SCV002934207 uncertain significance Brugada syndrome 2022-04-22 criteria provided, single submitter clinical testing This sequence change affects codon 907 of the CACNA2D1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CACNA2D1 protein. This variant is present in population databases (rs758369222, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with CACNA2D1-related conditions. ClinVar contains an entry for this variant (Variation ID: 637981). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a 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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