ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.45G>A (p.Pro15=)

gnomAD frequency: 0.00001  dbSNP: rs762947696
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001941007 SCV002213548 uncertain significance Shprintzen-Goldberg syndrome 2021-08-02 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals affected with SKI-related conditions. This sequence change affects codon 15 of the SKI mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SKI protein.

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