ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1456G>A (p.Val486Ile)

gnomAD frequency: 0.00004  dbSNP: rs200717031
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000218491 SCV000272435 uncertain significance not specified 2015-08-11 criteria provided, single submitter clinical testing The p.Val486Ile variant in SKI has not been previously reported in individuals w ith Shprintzen-Goldberg syndrome, but has been identified in 1/216 Yoruba Africa n chromosomes by the 1000 Genomes Project (dbSNP rs200717031). Computational pre diction tools and conservation analysis do not provide strong support for or aga inst an impact to the protein. In summary, the clinical significance of the p.Va l486Ile variant is uncertain.
Invitae RCV000535528 SCV000637281 likely benign Shprintzen-Goldberg syndrome 2022-08-23 criteria provided, single submitter clinical testing
GeneDx RCV002466469 SCV002762488 uncertain significance not provided 2022-11-11 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function

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