ClinVar Miner

Submissions for variant NC_000007.14:g.(?_81967159)_(81970747_?)del

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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 RCV001032040 SCV001195347 uncertain significance Brugada syndrome 2019-12-14 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exons 27-31 of the CACNA2D1 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with CACNA2D1-related conditions. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in CACNA2D1 cause disease. 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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