ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.2854-4G>A (rs113929946)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000589613 SCV000697546 benign not provided 2017-01-16 criteria provided, single submitter clinical testing Variant summary: The CACNA1C c.2854-4G>A variant involves the alteration of a non-conserved intronic nucleotide, which 5/5 splice prediction tools predict no significant impact on normal splicing and ESE finder predicts alterations to ESE binding, although these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 7/120806 (1/17259), predominantly in the European (Non-Finnish) cohort, 6/66684 (1/11113), which significantly exceeds the estimated maximal expected allele frequency for a pathogenic CACNA1C variant of 1/100000. Therefore, suggesting this variant is likely a benign polymorphism found in population(s) of European (Non-Finnish) origin. The variant of interest has, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories. Therefore, due to the frequency observed in the ExAC control population, the variant of interest has been classified as Benign.
Invitae RCV001084807 SCV000752893 likely benign Long QT syndrome 2019-12-31 criteria provided, single submitter clinical testing

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