Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV003402889 | SCV004118693 | likely pathogenic | CASR-related condition | 2022-09-01 | criteria provided, single submitter | clinical testing | The CASR c.2274delinsCC variant is predicted to result in a frameshift and premature protein termination (p.Ser759Leufs*11). 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. Frameshift variants in CASR are expected to be pathogenic. This variant is interpreted as likely pathogenic. |