Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000467436 | SCV000550382 | uncertain significance | Shprintzen-Goldberg syndrome | 2016-08-11 | criteria provided, single submitter | clinical testing | This sequence change inserts 6 nucleotides in exon 1 of the SKI mRNA (c.191_196dupTGCCCG). This leads to the insertion of 2 amino acid residues in the SKI protein (p.Val64_Pro65dup) but otherwise preserves the integrity of the reading frame. While this variant is not present in population databases (ExAC no frequency), the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in an individual with a SKI-related disease. In summary, this variant is a novel in-frame duplication with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. |
Gene |
RCV001574767 | SCV001801640 | likely benign | not provided | 2019-09-13 | criteria provided, single submitter | clinical testing |