ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.3949G>A (p.Ala1317Thr)

gnomAD frequency: 0.00001  dbSNP: rs749588699
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620862 SCV000736117 uncertain significance Cardiovascular phenotype 2017-11-27 criteria provided, single submitter clinical testing The p.A1317T variant (also known as c.3949G>A), located in coding exon 32 of the CACNA1C gene, results from a G to A substitution at nucleotide position 3949. The alanine at codon 1317 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and threonine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Ambry Genetics RCV000717959 SCV000848820 uncertain significance History of neurodevelopmental disorder 2017-11-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV001213243 SCV001384864 likely benign Long QT syndrome 2024-01-04 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV002261133 SCV002541185 uncertain significance not provided 2021-04-30 criteria provided, single submitter clinical testing

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