Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV000507977 | SCV000605114 | uncertain significance | not specified | 2016-10-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000815762 | SCV000956232 | uncertain significance | Shprintzen-Goldberg syndrome | 2018-07-24 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine with valine at codon 724 of the SKI protein (p.Ala724Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. 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. This variant has not been reported in the literature in individuals with SKI-related disease. ClinVar contains an entry for this variant (Variation ID: 440269). |