ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.4508A>T (p.Lys1503Met)

gnomAD frequency: 0.00005  dbSNP: rs747829176
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000232516 SCV000286099 likely benign Rhabdoid tumor predisposition syndrome 2 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000576096 SCV000663892 likely benign Hereditary cancer-predisposing syndrome 2019-12-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Sema4, Sema4 RCV000576096 SCV002532990 likely benign Hereditary cancer-predisposing syndrome 2020-08-28 criteria provided, single submitter curation
GeneDx RCV004760458 SCV005372016 uncertain significance not provided 2024-04-05 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29629977, 24658002, 37095444)

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.