Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000197075 | SCV000250690 | uncertain significance | not provided | 2015-05-05 | criteria provided, single submitter | clinical testing | The c.1584_1586delTGC variant was not observed in approximately 6,200 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This variant results in an in-frame deletion of one amino acid residue in exon 5 of the SKI gene. This residue is only moderately conserved across species and not located within any known functional domain. While two in-frame deletions in the SKI gene have been reported in association with Shprintzen-Goldberg syndrome, these deletions occur in exon 1, and no pathogenic variation has been reported in exon 5 (Carmignac et al., 2012; Doyle et al., 2012). However, it is still unclear whether this variant is a pathogenic mutation or a rare benign variant. |
| Invitae | RCV002517184 | SCV003463159 | uncertain significance | Shprintzen-Goldberg syndrome | 2022-09-21 | criteria provided, single submitter | clinical testing | 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with SKI-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.1584_1586del, results in the deletion of 1 amino acid(s) of the SKI protein (p.Ala530del), but otherwise preserves the integrity of the reading frame. |