ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.6898_6905del (p.Ile2300fs)

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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 RCV003783510 SCV004568775 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2022-10-27 criteria provided, single submitter clinical testing Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. 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 sequence change creates a premature translational stop signal (p.Ile2300Profs*14) in the CACNA1H gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 54 amino acid(s) of the CACNA1H protein.
GeneDx RCV004593454 SCV005078918 uncertain significance not provided 2023-04-14 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation as the last 54 amino acids are replaced with 13 different amino acids; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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