ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.1696G>A (p.Ala566Thr)

gnomAD frequency: 0.00014  dbSNP: rs202218948
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Total submissions: 5
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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 RCV000170875 SCV000050662 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000185501 SCV000223430 benign not specified 2018-03-09 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.
Invitae RCV001079557 SCV000647064 benign Brugada syndrome 4 2024-01-02 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000170875 SCV000700053 likely benign not provided 2017-05-22 criteria provided, single submitter clinical testing Variant summary: The CACNB2 c.1534G>A (p.Ala512Thr) variant involves the alteration of a conserved nucleotide. 3/4 in silico tools predict a damaging outcome for this variant (SNPsandGO not captured due to low reliability index). This variant was found in the large control database ExAC in 99 of 121336 control chromosomes (1 homozygote) of all ethnicities, but was predominantly observed in the South Asian subpopulation at a frequency of 0.005088 (84/16510; 1 homozygote). This frequency is about 509 times the estimated maximal expected allele frequency of a pathogenic CACNB2 variant (0.00001), providing strong evidence this is likely a benign polymorphism found primarily in the populations of South Asian origin. Two clinical diagnostic laboratories/reputable databases have classified this variant as one of uncertain significance, though one was submitted prior to the release of the ExAC database. Taken together, this variant is classified as likely benign.
Ambry Genetics RCV002399605 SCV002706687 likely benign Cardiovascular phenotype 2018-07-05 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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