ClinVar Miner

Submissions for variant NM_000722.4(CACNA2D1):c.2602C>T (p.Pro868Ser)

gnomAD frequency: 0.00001  dbSNP: rs1454596711
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002028863 SCV002290705 uncertain significance Brugada syndrome 2021-01-04 criteria provided, single submitter clinical testing 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. This sequence change replaces proline with serine at codon 868 of the CACNA2D1 protein (p.Pro868Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CACNA2D1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain.
Ambry Genetics RCV004046120 SCV003582402 uncertain significance Cardiovascular phenotype 2021-10-22 criteria provided, single submitter clinical testing The c.2602C>T (p.P868S) alteration is located in exon 33 (coding exon 33) of the CACNA2D1 gene. This alteration results from a C to T substitution at nucleotide position 2602, causing the proline (P) at amino acid position 868 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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