ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.408C>T (p.Ala136=)

gnomAD frequency: 0.00002  dbSNP: rs769295096
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001089094 SCV001011469 likely benign Long QT syndrome 2025-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000870002 SCV001148518 likely benign not provided 2019-05-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001192662 SCV001360921 likely benign not specified 2019-10-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002320009 SCV002628310 uncertain significance Cardiovascular phenotype 2020-11-30 criteria provided, single submitter clinical testing The c.408C>T variant (also known as p.A136A), located in coding exon 3 of the CACNA1C gene, results from a C to T substitution at nucleotide position 408. This nucleotide substitution does not change the alanine at codon 136. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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