ClinVar Miner

Submissions for variant NM_000722.4(CACNA2D1):c.2070T>G (p.Ile690Met)

dbSNP: rs1554333986
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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 RCV000638651 SCV000760189 uncertain significance Brugada syndrome 2017-08-22 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with methionine at codon 690 of the CACNA2D1 protein (p.Ile690Met). The isoleucine residue is weakly conserved and there is a small physicochemical difference between isoleucine and methionine. 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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).

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