Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000250311 | SCV000309365 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV001854963 | SCV002254789 | uncertain significance | Shprintzen-Goldberg syndrome | 2021-08-01 | 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 258901). This variant has not been reported in the literature in individuals affected with SKI-related conditions. This variant is present in population databases (rs749438586, ExAC 0.02%). This sequence change affects codon 165 of the SKI mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SKI protein. |