Submissions for variant NM_021098.3(CACNA1H):c.2394C>T (p.Gly798=)

gnomAD frequency: 0.00001  dbSNP: rs777762276

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002014759	SCV002235224	uncertain significance	Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV	2021-03-25	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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with CACNA1H-related conditions. This variant is present in population databases (rs777762276, ExAC 0.009%). This sequence change affects codon 798 of the CACNA1H mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CACNA1H protein.
Fulgent Genetics, Fulgent Genetics	RCV002484789	SCV002793129	uncertain significance	Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV	2022-04-01	criteria provided, single submitter	clinical testing