ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.1124C>T (p.Ala375Val)

gnomAD frequency: 0.00002  dbSNP: rs578106427
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000697864 SCV000826497 uncertain significance Brugada syndrome 4 2023-03-30 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. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on CACNB2 protein function. ClinVar contains an entry for this variant (Variation ID: 575601). This variant has not been reported in the literature in individuals affected with CACNB2-related conditions. This variant is present in population databases (rs578106427, gnomAD 0.006%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 321 of the CACNB2 protein (p.Ala321Val).
Ambry Genetics RCV003303160 SCV004000959 uncertain significance Cardiovascular phenotype 2023-05-18 criteria provided, single submitter clinical testing The p.A321V variant (also known as c.962C>T), located in coding exon 10 of the CACNB2 gene, results from a C to T substitution at nucleotide position 962. The alanine at codon 321 is replaced by valine, 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. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.

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