ClinVar Miner

Submissions for variant NC_000008.11:g.(?_67624156)_(67624271_?)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 RCV001031441 SCV001194747 uncertain significance Febrile seizures, familial, 11 2019-10-16 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exon 2 of the CPA6 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 CPA6-related conditions. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in CPA6 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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