ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.1490G>T (p.Gly497Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002385842 SCV002689113 uncertain significance Cardiovascular phenotype 2019-09-23 criteria provided, single submitter clinical testing The p.G443V variant (also known as c.1328G>T), located in coding exon 13 of the CACNB2 gene, results from a G to T substitution at nucleotide position 1328. The glycine at codon 443 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is highly 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.
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003992639 SCV004809950 uncertain significance Brugada syndrome 4 2024-04-04 criteria provided, single submitter clinical testing

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