ClinVar Miner

Submissions for variant NM_000722.4(CACNA2D1):c.897G>C (p.Gln299His)

gnomAD frequency: 0.00011  dbSNP: rs141238313
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000487289 SCV000572757 uncertain significance not provided 2020-11-20 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 423110; Landrum et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV000692336 SCV000820153 uncertain significance Brugada syndrome 2025-01-31 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 299 of the CACNA2D1 protein (p.Gln299His). This variant is present in population databases (rs141238313, gnomAD 0.02%). 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: 423110). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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 RCV002376885 SCV002684014 uncertain significance Cardiovascular phenotype 2023-04-05 criteria provided, single submitter clinical testing The p.Q299H variant (also known as c.897G>C), located in coding exon 11 of the CACNA2D1 gene, results from a G to C substitution at nucleotide position 897. The glutamine at codon 299 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and histidine is the reference amino acid in other 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.

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