ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.5225C>T (p.Ser1742Leu)

gnomAD frequency: 0.00001  dbSNP: rs375571032
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000700725 SCV000829493 likely benign Long QT syndrome 2023-09-04 criteria provided, single submitter clinical testing
New York Genome Center RCV001291697 SCV001480281 uncertain significance Timothy syndrome 2019-10-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002343527 SCV002646736 uncertain significance Cardiovascular phenotype 2021-09-03 criteria provided, single submitter clinical testing The p.S1742L variant (also known as c.5225C>T), located in coding exon 42 of the CACNA1C gene, results from a C to T substitution at nucleotide position 5225. The serine at codon 1742 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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