ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.1487G>A (p.Arg496Gln)

gnomAD frequency: 0.00004  dbSNP: rs369255950
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000170778 SCV000223333 uncertain significance not specified 2017-03-03 criteria provided, single submitter clinical testing The R496Q variant of uncertain significance in the CACNA1C gene has not been published as pathogenic or benign to our knowledge. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). In addition, R496Q is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution also occurs at a position that is conserved across species. Furthermore, the majority of in silico algorithms predict R496Q is probably damaging to the protein structure/function. Therefore, additional evidence is needed to determine whether this variant is pathogenic or benign.
Ambry Genetics RCV000618842 SCV000737430 benign Cardiovascular phenotype 2024-03-19 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV000706039 SCV000835068 likely benign Long QT syndrome 2024-01-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485065 SCV002777263 uncertain significance Timothy syndrome; Brugada syndrome 3; Long qt syndrome 8 2021-08-03 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003144147 SCV003830331 uncertain significance not provided 2023-12-01 criteria provided, single submitter clinical testing

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