ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1139G>A (p.Arg380Gln) (rs760033804)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000197996 SCV000250676 uncertain significance not provided 2014-06-16 criteria provided, single submitter clinical testing p.Arg380Gln (CGA>CAA): c.1139 G>A in exon 3 of the SKI gene (NM_003036.3) Mutations in the SKI gene cause Shprintzen-Goldberg syndrome (SGS) are rare autosomal dominant disorder characterized by craniofacial, skeletal, neurological and cardiovascular anomalies. Cardiovascular anomalies of SGS include mitral valve prolapse and aortic root dilatation. Mutations in SKI usually occur de novo in the affected individual and are not inherited from an affected parent (Greally M, 2013; Carmignac et al., 2012, Doyle et al 2012). A variant of unknown significance has been identified in the SKI gene. The R380Q variant has not been published as a mutation or reported as a benign polymorphism to our knowledge. The R380Q 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 R380Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. However, no missense mutations in nearby residues have been reported in association with Shprintzen-Goldberg syndrome. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. This variant was found in TAAD

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