ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.638_895del (p.Leu213_Ala298del) (rs1553189986)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000536230 SCV000637301 pathogenic Shprintzen-Goldberg syndrome 2017-08-08 criteria provided, single submitter clinical testing This variant, c.638_895del258, results in the deletion of 86 amino acids of the SKI protein (p.Leu213_Ala298del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been found to be de novo in an individual affected with with SKI-related disease (Invitae). This deletion includes the I-loop domain of the SKI protein (residues p.264-p.284) that has been shown to be required for binding to Smad4 (PMID: 12419246, 12857746). The clinical relevance of this finding is uncertain. For these reasons, this variant has been classified as Pathogenic.

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