Submissions for variant NM_003036.4(SKI):c.2185del (p.Ter729ArgextTer?)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003632547	SCV004519477	uncertain significance	Shprintzen-Goldberg syndrome	2024-01-01	criteria provided, single submitter	clinical testing	This sequence change disrupts the translational stop signal of the SKI mRNA. It is expected to extend the length of the SKI protein by 47 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SKI-related conditions. 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.
Ambry Genetics	RCV004676263	SCV005166702	uncertain significance	Familial thoracic aortic aneurysm and aortic dissection	2024-03-28	criteria provided, single submitter	clinical testing	The c.2185delT variant (also known as c.*729Rext*47), located in coding exon 7 of the SKI gene, results from a deletion of one nucleotide at nucleotide position 2185. This alteration disrupts the stop codon of the SKI gene and is predicted to preserve the native sequence while resulting in the elongation of the protein by 47 amino acids. The exact functional effect of the additional amino acids is unknown. Based on the available evidence, the clinical significance of this alteration remains unclear.