ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.1592G>A (p.Arg531His)

gnomAD frequency: 0.00057  dbSNP: rs184280124
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000170872 SCV000223427 likely benign not provided 2021-07-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618110 SCV000737504 likely benign Cardiovascular phenotype 2020-12-10 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001085407 SCV000767972 likely benign Brugada syndrome 4 2024-01-08 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002281992 SCV002571833 likely benign not specified 2022-08-06 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001085407 SCV004564848 uncertain significance Brugada syndrome 4 2023-11-08 criteria provided, single submitter clinical testing The CACNB2 c.1430G>A; p.Arg477His variant (rs184280124), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 190729). This variant is found in the Latino population with an allele frequency of 0.14% (49/34,420 alleles) in the Genome Aggregation Database. The arginine at codon 477 is moderately conserved considering 12 species and computational analyses (SIFT: tolerated, PolyPhen-2: probably damaging) predict conflicting effects of this variant on protein structure/function. Due to limited information, the clinical significance of this variant is uncertain at this time.

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