ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.13A>C (p.Asn5His)

dbSNP: rs886049150
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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 RCV001958020 SCV002208429 uncertain significance Long QT syndrome 2023-11-18 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with histidine, which is basic and polar, at codon 5 of the CACNA1C protein (p.Asn5His). This variant is not present in population databases (gnomAD no frequency). 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: 1439077). 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 RCV002388898 SCV002697716 uncertain significance Cardiovascular phenotype 2023-12-07 criteria provided, single submitter clinical testing The p.N5H variant (also known as c.13A>C), located in coding exon 1 of the CACNA1C gene, results from an A to C substitution at nucleotide position 13. The asparagine at codon 5 is replaced by histidine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002492029 SCV002782009 uncertain significance Timothy syndrome; Brugada syndrome 3; Long qt syndrome 8 2021-08-02 criteria provided, single submitter clinical testing

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