ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.539C>A (p.Thr180Lys)

dbSNP: rs863223722
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV000585638 SCV000693450 likely pathogenic Disproportionate tall stature 2017-06-12 criteria provided, single submitter clinical testing This variant in the SKI gene was identified in a female patient with suspicion of Marfan syndrome and familial migraine. There were no variants in the FBN1, TGFBR1 and TGFBR2 genes, as assessed by exome sequencing (NGS) and MLPA analysis

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