ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.6311_6325del (p.Ile2104_Cys2109delinsSer)

gnomAD frequency: 0.00025  dbSNP: rs774660673
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000635020 SCV000756398 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-01-14 criteria provided, single submitter clinical testing This variant, c.6311_6325del, is a complex sequence change that results in the deletion of 6 and insertion of 1 amino acid(s) in the CACNA1H protein (p.Ile2104_Cys2109delinsSer). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with CACNA1H-related conditions. ClinVar contains an entry for this variant (Variation ID: 529561). 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.

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