ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.1816C>T (p.Arg606Trp)

dbSNP: rs61733968
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000170881 SCV000055194 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000170881 SCV000223436 uncertain significance not provided 2017-09-21 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the CACNB2 gene. The R552W variant has not beenpublished as pathogenic or been reported as benign to our knowledge. However, this variant has been identified inother unrelated individuals referred for arrhythmia genetic testing at GeneDx. The R552W variant is anon-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differin polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals.Nevertheless, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to theprotein structure/function. Furthermore, the R552W variant is observed in 21/126,512 alleles from individuals ofEuropean (Non-Finnish) ancestry and 34/10,138 alleles from individuals of Ashkenazi Jewish ancestry in largepopulation cohorts (Lek et al.,2016).
Labcorp Genetics (formerly Invitae), Labcorp RCV001081634 SCV000767975 likely benign Brugada syndrome 4 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002399606 SCV002707078 likely benign Cardiovascular phenotype 2020-10-05 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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