ClinVar Miner

Submissions for variant NM_000722.4(CACNA2D1):c.688C>T (p.Pro230Ser)

gnomAD frequency: 0.00002  dbSNP: rs1461155317
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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 RCV001239964 SCV001412875 uncertain significance Brugada syndrome 2022-11-08 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 230 of the CACNA2D1 protein (p.Pro230Ser). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with CACNA2D1-related conditions. ClinVar contains an entry for this variant (Variation ID: 965498). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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 RCV003166496 SCV003856749 uncertain significance Cardiovascular phenotype 2024-09-20 criteria provided, single submitter clinical testing The c.688C>T (p.P230S) alteration is located in exon 8 (coding exon 8) of the CACNA2D1 gene. This alteration results from a C to T substitution at nucleotide position 688, causing the proline (P) at amino acid position 230 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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