Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV002292957 | SCV002585658 | likely benign | not provided | 2022-12-01 | criteria provided, single submitter | clinical testing | CACNA1G: BP4, BS1 |
Invitae | RCV002292957 | SCV003262099 | likely benign | not provided | 2023-12-07 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004534043 | SCV004116029 | uncertain significance | CACNA1G-related disorder | 2023-04-13 | criteria provided, single submitter | clinical testing | The CACNA1G c.3265G>A variant is predicted to result in the amino acid substitution p.Ala1089Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.078% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/17-48676795-G-A). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |