Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001214329 | SCV001386006 | uncertain significance | not provided | 2022-01-13 | criteria provided, single submitter | clinical testing | Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. ClinVar contains an entry for this variant (Variation ID: 944019). This variant has been observed in individuals with retinitis pigmentosa (Invitae). This variant is present in population databases (rs753751184, gnomAD 0.01%). This variant, c.263_265del, results in the deletion of 1 amino acid(s) of the CYP4V2 protein (p.Pro88del), but otherwise preserves the integrity of the reading frame. |