ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1581_1583TGC[1] (p.Ala530del) (rs863223725)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000197075 SCV000250690 uncertain significance not provided 2015-05-05 criteria provided, single submitter clinical testing The c.1584_1586delTGC variant was not observed in approximately 6,200 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This variant results in an in-frame deletion of one amino acid residue in exon 5 of the SKI gene. This residue is only moderately conserved across species and not located within any known functional domain. While two in-frame deletions in the SKI gene have been reported in association with Shprintzen-Goldberg syndrome, these deletions occur in exon 1, and no pathogenic variation has been reported in exon 5 (Carmignac et al., 2012; Doyle et al., 2012). However, it is still unclear whether this variant is a pathogenic mutation or a rare benign variant.

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