ClinVar Miner

Submissions for variant NM_000722.4(CACNA2D1):c.590G>A (p.Arg197His)

gnomAD frequency: 0.00010  dbSNP: rs375189396
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000801707 SCV000941499 uncertain significance Brugada syndrome 2024-09-18 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 197 of the CACNA2D1 protein (p.Arg197His). This variant is present in population databases (rs375189396, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with CACNA2D1-related conditions. ClinVar contains an entry for this variant (Variation ID: 647242). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Ambry Genetics RCV002352365 SCV002652594 uncertain significance Cardiovascular phenotype 2022-01-04 criteria provided, single submitter clinical testing The c.590G>A (p.R197H) alteration is located in exon 7 (coding exon 7) of the CACNA2D1 gene. This alteration results from a G to A substitution at nucleotide position 590, causing the arginine (R) at amino acid position 197 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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