Submissions for variant NM_001256789.3(CACNA1F):c.5232G>A (p.Arg1744=)

gnomAD frequency: 0.00005  dbSNP: rs782598962

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV001532681	SCV001748349	likely benign	not provided	2021-06-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001532681	SCV003483549	uncertain significance	not provided	2023-05-07	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 is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 1176934). This variant has not been reported in the literature in individuals affected with CACNA1F-related conditions. This variant is present in population databases (rs782598962, gnomAD 0.04%), and has an allele count higher than expected for a pathogenic variant. This sequence change affects codon 1755 of the CACNA1F mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CACNA1F protein. It affects a nucleotide within the consensus splice site.