ClinVar Miner

Submissions for variant NM_000722.4(CACNA2D1):c.1434_1439del (p.Asn478_Leu479del)

dbSNP: rs1554349582
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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 RCV000638707 SCV000760249 uncertain significance Brugada syndrome 2017-09-28 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. This variant has not been reported in the literature in individuals with CACNA2D1-related disease. This variant is not present in population databases (ExAC no frequency). This variant, c.1434_1439delCTTAAA, results in the deletion of 2 amino acids of the CACNA2D1 protein (p.Asn478_Leu479del), but otherwise preserves the integrity of the reading frame.

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