Submissions for variant NM_003036.4(SKI):c.736C>T (p.Gln246Ter) (rs1064796874)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000484316	SCV000574033	uncertain significance	not provided	2017-03-13	criteria provided, single submitter	clinical testing	The Q246X variant in the SKI gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q246X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Although loss-of-function variants have not been report in the Human Gene Mutation Database in association with Shprintzen-Goldberg syndrome (Stenson et al., 2014), a de novo loss-of-function variant in the SKI gene has been observed in an individual referred for whole exome sequencing at GeneDx with clinical features consistent with Shprintzen-Goldberg syndrome. We interpret Q246X as a variant of uncertain significance.

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