ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.622T>C (p.Leu208=)

dbSNP: rs538160664
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000254060 SCV000320059 likely benign Cardiovascular phenotype 2015-08-17 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.
GeneDx RCV000426602 SCV000515399 benign not specified 2016-06-24 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589421 SCV000700056 benign not provided 2016-06-08 criteria provided, single submitter clinical testing Variant summary: The CACNB2 c.460T>C (p.Leu154Leu) variant causes a synonymous change involving a non-conserved nucleotide with 5/5 splice prediction tools predicting no significant impact on splicing, although these predictions have yet to be functionally assessed.. This variant was observed in the large, broad control population, ExAC, with an allele frequency of 80/118066 (1 homozygote, 1/1475, frequency 0.0006776), which significantly exceeds the estimated maximal expected allele frequency for a pathogenic CACNB2 variant of 1/100000 (0.00001), suggesting this variant is likely a benign polymorphism. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories. Taken together, this variant is classified as Benign.
Invitae RCV001078923 SCV001011284 benign Brugada syndrome 4 2023-11-28 criteria provided, single submitter clinical testing

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