ClinVar Miner

Submissions for variant NM_002972.4(SBF1):c.2255C>T (p.Thr752Met) (rs188976869)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000904394 SCV001048908 likely benign not provided 2018-11-20 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001000701 SCV001157741 uncertain significance Charcot-Marie-Tooth disease, type 4B3 2018-07-31 criteria provided, single submitter clinical testing The SBF1 c.2255C>T; p.Thr752Met variant (rs188976869), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in the African population with an overall allele frequency of 0.32% (78/24016 alleles) in the Genome Aggregation Database. The threonine at codon 752 is highly conserved, but computational analyses (SIFT: tolerated, PolyPhen-2: possibly damaging) predict conflicting effects of this variant on protein structure/function. Due to limited information, the clinical significance of the c.2255C>T; p.Thr752Met variant is uncertain at this time.

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.