ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.4140+4G>A

gnomAD frequency: 0.00018  dbSNP: rs111442547
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000152903 SCV000202330 uncertain significance not provided 2014-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617283 SCV000736118 likely benign Cardiovascular phenotype 2017-12-27 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV000631662 SCV000752745 uncertain significance Long QT syndrome 2024-01-22 criteria provided, single submitter clinical testing This sequence change falls in intron 33 of the CACNA1C gene. It does not directly change the encoded amino acid sequence of the CACNA1C protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs111442547, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with CACNA1C-related conditions. ClinVar contains an entry for this variant (Variation ID: 166772). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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.
GeneDx RCV000152903 SCV001893967 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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