ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.898C>T (p.Leu300Phe)

dbSNP: rs1569660908
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000803354 SCV000943220 uncertain significance Shprintzen-Goldberg syndrome 2018-11-15 criteria provided, single submitter clinical testing 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 missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with SKI-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with phenylalanine at codon 300 of the SKI protein (p.Leu300Phe). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and phenylalanine.
GeneDx RCV001766666 SCV001991179 uncertain significance not provided 2019-06-26 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Ambry Genetics RCV002370130 SCV002683713 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-04-29 criteria provided, single submitter clinical testing The p.L300F variant (also known as c.898C>T), located in coding exon 1 of the SKI gene, results from a C to T substitution at nucleotide position 898. The leucine at codon 300 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV003127469 SCV003803842 likely benign Autism spectrum disorder 2021-08-18 criteria provided, single submitter clinical testing

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