Submissions for variant NM_021098.3(CACNA1H):c.4350+6T>C

gnomAD frequency: 0.00001  dbSNP: rs367545564

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001350137	SCV001544516	uncertain significance	Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV	2023-07-19	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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1045684). This variant has not been reported in the literature in individuals affected with CACNA1H-related conditions. This variant is present in population databases (rs367545564, gnomAD 0.005%). This sequence change falls in intron 22 of the CACNA1H gene. It does not directly change the encoded amino acid sequence of the CACNA1H protein. It affects a nucleotide within the consensus splice site.
Fulgent Genetics, Fulgent Genetics	RCV002486442	SCV002786687	uncertain significance	Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV	2022-03-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004545210	SCV004783675	likely benign	CACNA1H-related disorder	2021-12-30	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).