ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.415G>T (p.Ala139Ser)

dbSNP: rs886039055
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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 RCV000244767 SCV000319851 uncertain significance Cardiovascular phenotype 2015-06-30 criteria provided, single submitter clinical testing The p.A85S variant (also known as c.253G>T), located in coding exon 3 of the CACNB2 gene, results from a G to T substitution at nucleotide position 253. The alanine at codon 85 is replaced by serine, an amino acid with some similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence for this variant is limited at this time, its clinical significance is unclear.
Revvity Omics, Revvity RCV003144181 SCV003828864 uncertain significance Brugada syndrome 4 2019-10-25 criteria provided, single submitter clinical testing

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