ClinVar Miner

Submissions for variant NM_000726.5(CACNB4):c.1549C>T (p.Arg517Ter)

gnomAD frequency: 0.00003  dbSNP: rs370263335
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186840 SCV000240411 uncertain significance not provided 2017-11-13 criteria provided, single submitter clinical testing p.Arg517Stop (CGA>TGA): c.1549 C>T in exon 14 of the CACNB4 gene (NM_000726.2). The Arg517Stop nonsense variant in the CACNB4 gene has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The variant may cause loss of normal protein function through protein truncation as the last four amino acids of the protein are lost; however, the affect of nonsense mutations at the end of the protein is unknown. Therefore, based on the currently available information, it is unclear whether Arg517Stop is a disease-causing mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).
Labcorp Genetics (formerly Invitae), Labcorp RCV000812419 SCV000952730 uncertain significance Idiopathic generalized epilepsy 2018-08-22 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the CACNB4 gene (p.Arg517*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 4 amino acids of the CACNB4 protein. This variant is present in population databases (rs370263335, ExAC 0.03%). This variant has not been reported in the literature in individuals with CACNB4-related disease. ClinVar contains an entry for this variant (Variation ID: 204936). 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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