ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.1591C>T (p.Arg531Cys)

gnomAD frequency: 0.00019  dbSNP: rs202152674
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER _CC_NCGL, University of Washington RCV000417288 SCV000503521 uncertain significance Brugada syndrome 2016-10-01 criteria provided, single submitter research Found in patient having exome sequencing for an unrelated indication. No known history of Brugada syndrome. This interpretation considers GERP score and allele frequency data, in addition to published reports of the variant in the literature, available at the time of review.
GeneDx RCV000498848 SCV000590484 uncertain significance not provided 2024-07-29 criteria provided, single submitter clinical testing Identified in patients with Type 1 diabetes and proliferative diabetic retinopathy (PDR) in published literature (PMID: 31439644); In silico analysis supports that this missense variant does not alter protein structure/function; Also known as p.(R476C); Variants in candidate genes are classified as variants of uncertain significance in accordance with ACMG guidelines (PMID: 25741868); This variant is associated with the following publications: (PMID: 31439644, 25741868)
Labcorp Genetics (formerly Invitae), Labcorp RCV001086385 SCV000647062 likely benign Brugada syndrome 4 2023-10-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619934 SCV000736211 likely benign Cardiovascular phenotype 2022-05-27 criteria provided, single submitter clinical testing This alteration is classified as likely 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.

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