ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1871AGA[2] (p.Lys626del)

dbSNP: rs863223726
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198612 SCV000250691 uncertain significance not provided 2019-08-15 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance but additional evidence is not available (ClinVar Variant ID# 213705; Landrum et al., 2016); Not observed in large population cohorts (Lek et al., 2016); In-frame deletion of one lysine residue, and in silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Ambry Genetics RCV002315619 SCV000739610 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-05-24 criteria provided, single submitter clinical testing The c.1877_1879delAGA variant (also known as p.K626del) is located in coding exon 6 of the SKI gene. This variant results from an in-frame deletion of three nucleotides at positions 1877 to 1879, causing the removal of a well-conserved lysine residue at codon 626. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6483 samples (12966 alleles) with coverage at this position. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Invitae RCV003517147 SCV004286653 uncertain significance Shprintzen-Goldberg syndrome 2023-03-27 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 213705). This variant has not been reported in the literature in individuals affected with SKI-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.1877_1879del, results in the deletion of 1 amino acid(s) of the SKI protein (p.Lys626del), but otherwise preserves the integrity of the reading frame. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant 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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