ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.499_500delinsGG (p.Leu167Gly) (rs863223724)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000200337 SCV000250689 likely pathogenic not provided 2016-08-08 criteria provided, single submitter clinical testing A novel L167G (c.499_500delCTinsGG) variant that is likely pathogenic was identified in the SKI gene. It has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. However, it was found to be an assumed de novo variant in this individual who has a clinical diagnosis of Shprintzen-Goldberg syndrome syndrome. The L167G variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The L167G variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In addition, this substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function.Therefore, this variant is likely pathogenic. In order to definitively determine its clinical significance, additional data is required.

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