Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV003397428 | SCV004105124 | pathogenic | OFD1-related condition | 2023-07-10 | criteria provided, single submitter | clinical testing | The OFD1 c.1268_1272del5 variant is predicted to result in a frameshift and premature protein termination (p.Gln423Profs*5). This variant has been reported to have arisen de novo in an individual with oral-facial-digital syndrome I (Prattichizzo et al 2008. PubMed ID: 18546297). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in OFD1 are expected to be pathogenic. This variant is interpreted as pathogenic. |