ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.5398C>T (p.Pro1800Ser)

gnomAD frequency: 0.00002  dbSNP: rs921032597
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000800202 SCV000939902 uncertain significance Long QT syndrome 2023-12-30 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1800 of the CACNA1C protein (p.Pro1800Ser). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with CACNA1C-related conditions. ClinVar contains an entry for this variant (Variation ID: 646004). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CACNA1C protein function with a negative predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002345783 SCV002650970 uncertain significance Cardiovascular phenotype 2020-01-09 criteria provided, single submitter clinical testing The p.P1800S variant (also known as c.5398C>T), located in coding exon 42 of the CACNA1C gene, results from a C to T substitution at nucleotide position 5398. The proline at codon 1800 is replaced by serine, an amino acid with similar properties. This amino acid position is highly conserved in available 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.
Mayo Clinic Laboratories, Mayo Clinic RCV003480837 SCV004226280 uncertain significance not provided 2022-10-25 criteria provided, single submitter clinical testing PP2

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