ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.2185del (p.Ter729ArgextTer?)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003632547 SCV004519477 uncertain significance Shprintzen-Goldberg syndrome 2024-01-01 criteria provided, single submitter clinical testing This sequence change disrupts the translational stop signal of the SKI mRNA. It is expected to extend the length of the SKI protein by 47 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SKI-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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