ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1767+11C>T

gnomAD frequency: 0.00003  dbSNP: rs202132957
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000600470 SCV000727037 likely benign not specified 2018-02-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002528620 SCV003254321 uncertain significance Shprintzen-Goldberg syndrome 2024-05-22 criteria provided, single submitter clinical testing This sequence change falls in intron 5 of the SKI gene. It does not directly change the encoded amino acid sequence of the SKI protein. This variant is present in population databases (rs202132957, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with SKI-related conditions. ClinVar contains an entry for this variant (Variation ID: 515061). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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