Submissions for variant NM_021098.3(CACNA1H):c.354C>T (p.Gly118=)

dbSNP: rs1342020189

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001309430	SCV001498927	uncertain significance	Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV	2021-04-09	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 not present in population databases (ExAC no frequency). This sequence change affects codon 118 of the CACNA1H mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CACNA1H protein.
PreventionGenetics, part of Exact Sciences	RCV004734112	SCV005350627	likely benign	CACNA1H-related disorder	2024-06-19	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).