ClinVar Miner

Submissions for variant NM_001128849.2(SMARCA4):c.1098C>G (p.Ile366Met) (rs532242119)

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 RCV000573608 SCV000672098 uncertain significance Hereditary cancer-predisposing syndrome 2018-03-23 criteria provided, single submitter clinical testing Insufficient evidence;In silico models in agreement (benign)
Fulgent Genetics,Fulgent Genetics RCV000765417 SCV000896701 uncertain significance Rhabdoid tumor predisposition syndrome 2; Mental retardation, autosomal dominant 16 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000801662 SCV000941450 uncertain significance Rhabdoid tumor predisposition syndrome 2 2019-12-26 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with methionine at codon 366 of the SMARCA4 protein (p.Ile366Met). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and methionine. This variant is present in population databases (rs532242119, ExAC 0.009%). This variant has been reported in an individual affected with breast cancer (PMID: 28202063). ClinVar contains an entry for this variant (Variation ID: 484848). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.

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.