ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.1168G>A (p.Ala390Thr)

gnomAD frequency: 0.00004  dbSNP: rs370564617
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
AiLife Diagnostics, AiLife Diagnostics RCV000994362 SCV002502353 uncertain significance not provided 2021-09-17 criteria provided, single submitter clinical testing
Invitae RCV002549867 SCV003474824 uncertain significance Brugada syndrome 4 2023-09-21 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 alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 336 of the CACNB2 protein (p.Ala336Thr). This variant is present in population databases (rs370564617, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with CACNB2-related conditions. ClinVar contains an entry for this variant (Variation ID: 806445). 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 expected to disrupt CACNB2 protein function.

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