ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.1912G>T (p.Asp638Tyr)

gnomAD frequency: 0.00001  dbSNP: rs142735478
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332032 SCV001524219 uncertain significance Brugada syndrome 4 2020-07-29 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV001332032 SCV001536020 uncertain significance Brugada syndrome 4 2021-08-20 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with tyrosine at codon 584 of the CACNB2 protein (p.Asp584Tyr). The aspartic acid residue is moderately conserved and there is a large physicochemical difference between aspartic acid and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with CACNB2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002402922 SCV002711646 uncertain significance Cardiovascular phenotype 2020-03-26 criteria provided, single submitter clinical testing The p.D584Y variant (also known as c.1750G>T), located in coding exon 13 of the CACNB2 gene, results from a G to T substitution at nucleotide position 1750. The aspartic acid at codon 584 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV001332032 SCV002777465 uncertain significance Brugada syndrome 4 2021-08-23 criteria provided, single submitter clinical testing

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