ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1439_1444CGGAGG[1] (p.Ala482_Glu483del) (rs762410895)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623766 SCV000741001 uncertain significance Inborn genetic diseases 2015-08-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected
Invitae RCV000813287 SCV000953643 uncertain significance Shprintzen-Goldberg syndrome 2019-03-22 criteria provided, single submitter clinical testing This variant, c.1445_1450delCGGAGG, results in the deletion of 2 amino acid(s) of the SKI protein (p.Ala482_Glu483del), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with SKI-related disease. ClinVar contains an entry for this variant (Variation ID: 520744). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid(s) 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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