ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.2396C>A (p.Ser799Tyr)

gnomAD frequency: 0.00003  dbSNP: rs398123519
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079282 SCV000111152 uncertain significance not provided 2013-02-14 criteria provided, single submitter clinical testing
Invitae RCV001064085 SCV001228961 uncertain significance Long QT syndrome 2023-12-22 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 799 of the CACNA1C protein (p.Ser799Tyr). This variant is present in population databases (rs398123519, gnomAD 0.002%). This missense change has been observed in individual(s) with long QT syndrome (PMID: 27920829). ClinVar contains an entry for this variant (Variation ID: 93397). 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.
Fulgent Genetics, Fulgent Genetics RCV002490690 SCV002780778 uncertain significance Timothy syndrome; Brugada syndrome 3; Long qt syndrome 8 2021-10-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002515760 SCV003745284 uncertain significance Inborn genetic diseases 2021-07-15 criteria provided, single submitter clinical testing The c.2396C>A (p.S799Y) alteration is located in exon 17 (coding exon 17) of the CACNA1C gene. This alteration results from a C to A substitution at nucleotide position 2396, causing the serine (S) at amino acid position 799 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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