ClinVar Miner

Submissions for variant NM_003079.5(SMARCE1):c.761AGA[2] (p.Lys256del)

dbSNP: rs769002311
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001026688 SCV001189118 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-16 criteria provided, single submitter clinical testing The c.767_769delAGA variant (also known as p.K256del) is located in coding exon 8 of the SMARCE1 gene. This variant results from an in-frame AGA deletion at nucleotide positions 767 to 769. This results in the in-frame deletion of a lysine at codon 256. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Based on the available evidence, the clinical significance of this variant remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001862378 SCV002121300 uncertain significance Familial meningioma 2023-09-19 criteria provided, single submitter clinical testing This variant, c.767_769del, results in the deletion of 1 amino acid(s) of the SMARCE1 protein (p.Lys256del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs769002311, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with SMARCE1-related conditions. ClinVar contains an entry for this variant (Variation ID: 827186). 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.
GeneDx RCV005241416 SCV005889156 uncertain significance not provided 2024-09-11 criteria provided, single submitter clinical testing In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; De novo variant with confirmed parentage in a patient referred for genetic testing at GeneDx; however, the reported clinical features are only partially consistent with the features typically observed in individuals with pathogenic variants in this gene; This variant is associated with the following publications: (PMID: 9435219)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.