ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.1293G>A (p.Gln431=)

gnomAD frequency: 0.00093  dbSNP: rs148414498
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001087597 SCV000562837 benign Brugada syndrome 4 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000827126 SCV000968748 likely benign not provided 2021-01-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002323810 SCV002609207 benign Cardiovascular phenotype 2019-06-20 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.
PreventionGenetics, part of Exact Sciences RCV003970363 SCV004789574 likely benign CACNB2-related disorder 2019-04-25 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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