ClinVar Miner

Submissions for variant NM_000722.4(CACNA2D1):c.1530G>A (p.Gly510=)

gnomAD frequency: 0.00012  dbSNP: rs757607965
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205324 SCV000261178 likely benign Brugada syndrome 2023-10-29 criteria provided, single submitter clinical testing
GeneDx RCV001753617 SCV002006948 likely benign not provided 2021-06-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002399764 SCV002708267 likely benign Cardiovascular phenotype 2021-01-21 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
PreventionGenetics, part of Exact Sciences RCV003955231 SCV004773372 likely benign CACNA2D1-related condition 2020-01-27 criteria provided, single submitter 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).

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