ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.818C>T (p.Pro273Leu)

dbSNP: rs375425461
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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 RCV000618286 SCV000737461 uncertain significance Cardiovascular phenotype 2023-12-17 criteria provided, single submitter clinical testing The c.656C>T (p.P219L) alteration is located in exon 7 (coding exon 7) of the CACNB2 gene. This alteration results from a C to T substitution at nucleotide position 656, causing the proline (P) at amino acid position 219 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002499000 SCV002792780 uncertain significance Brugada syndrome 4 2021-10-25 criteria provided, single submitter clinical testing

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