ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1211+2T>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002650898 SCV003515671 uncertain significance Shprintzen-Goldberg syndrome 2022-05-20 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SKI-related conditions. 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. Studies have shown that disruption of this splice site is associated with altered splicing resulting in unknown protein product impact (PMID: 32123317). This variant is present in population databases (rs762589753, gnomAD 0.002%). This sequence change affects a donor splice site in intron 3 of the SKI gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), however the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in SKI cause disease.

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