Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000658452 | SCV000780224 | uncertain significance | not provided | 2018-06-05 | criteria provided, single submitter | clinical testing | The c.665_676del12 variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.665_676del12 variant is not observed in large population cohorts (Lek et al., 2016). The c.665_676del12 variant results in an in-frame deletion of 4 amino acid residues, denoted p.Gly222_Met225del. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
| Invitae | RCV003617857 | SCV004533427 | uncertain significance | Holoprosencephaly 5 | 2023-12-27 | criteria provided, single submitter | clinical testing | This variant, c.665_676del, results in the deletion of 4 amino acid(s) of the ZIC2 protein (p.Gly222_Met225del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ZIC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 546554). 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. |