ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3656C>T (p.Pro1219Leu)

gnomAD frequency: 0.00001  dbSNP: rs573365997
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000419305 SCV000536569 uncertain significance not provided 2019-04-08 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001865406 SCV002127980 uncertain significance Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2022-08-16 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CACNA1A-related conditions. This variant is present in population databases (rs573365997, gnomAD 0.007%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1220 of the CACNA1A protein (p.Pro1220Leu). ClinVar contains an entry for this variant (Variation ID: 393193). 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 disruptive.

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