Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV003410895 | SCV004114163 | likely pathogenic | COL1A2-related disorder | 2022-09-23 | criteria provided, single submitter | clinical testing | The COL1A2 c.2079+1G>A variant is predicted to disrupt the GT donor site and interfere with normal splicing. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Variants that disrupt the consensus splice donor site in COL1A2 are expected to be pathogenic. This variant is interpreted as likely pathogenic. |