ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.3946-10C>G

dbSNP: rs370630496
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000457567 SCV000553010 uncertain significance Long QT syndrome 2022-03-18 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 411722). This variant has not been reported in the literature in individuals affected with CACNA1C-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 31 of the CACNA1C gene. It does not directly change the encoded amino acid sequence of the CACNA1C protein.

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