ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.3901_3903del (p.Leu1301del)

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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 RCV002996615 SCV003309199 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2022-02-03 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 or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with CACNA1H-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.3901_3903del, results in the deletion of 1 amino acid(s) of the CACNA1H protein (p.Leu1301del), but otherwise preserves the integrity of the reading frame.
GeneDx RCV004774774 SCV005385236 uncertain significance not provided 2024-01-04 criteria provided, single submitter clinical testing In-frame deletion of 1 amino acid in a non-repeat region; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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