Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003052855 | SCV003446229 | uncertain significance | Brugada syndrome 4 | 2022-09-13 | 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with CACNB2-related conditions. This variant is present in population databases (rs777478383, gnomAD 0.002%). This variant, c.1693_1695del, results in the deletion of 1 amino acid(s) of the CACNB2 protein (p.Asn565del), but otherwise preserves the integrity of the reading frame. |
Prevention |
RCV003395574 | SCV004119265 | uncertain significance | CACNB2-related disorder | 2023-08-31 | criteria provided, single submitter | clinical testing | The CACNB2 c.1693_1695delAAC variant is predicted to result in an in-frame deletion (p.Asn565del). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0018% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/10-18828522-CACA-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |