ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3715A>G (p.Ile1239Val)

gnomAD frequency: 0.00001  dbSNP: rs375903481
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001363380 SCV001559489 uncertain significance Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2020-02-14 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with CACNA1A-related conditions. This variant is present in population databases (rs375903481, ExAC 0.02%). This sequence change replaces isoleucine with valine at codon 1240 of the CACNA1A protein (p.Ile1240Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. 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. 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.
Revvity Omics, Revvity RCV003145619 SCV003830290 uncertain significance not provided 2019-08-23 criteria provided, single submitter clinical testing

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