ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.2186_*9dup (p.Ter729=)

dbSNP: rs1640597997
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001348392 SCV001542692 uncertain significance Shprintzen-Goldberg syndrome 2020-10-27 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with SKI-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant occurs in a non-coding region of the SKI gene. It does not change the encoded amino acid sequence of the SKI protein.

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