ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.2168C>A (p.Ala723Asp) (rs1264586139)

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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 RCV000621008 SCV000739616 uncertain significance Cardiovascular phenotype 2016-08-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000688423 SCV000816033 uncertain significance Shprintzen-Goldberg syndrome 2018-06-28 criteria provided, single submitter clinical testing This sequence change replaces alanine with aspartic acid at codon 723 of the SKI protein (p.Ala723Asp). The alanine residue is weakly conserved and there is a moderate physicochemical difference between alanine and aspartic acid. While this variant is not present in population databases, the frequency information is 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: 520155). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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