ClinVar Miner

Submissions for variant NM_012431.3(SEMA3E):c.1172A>T (p.Tyr391Phe)

gnomAD frequency: 0.00002  dbSNP: rs753965043
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001037725 SCV001201153 uncertain significance CHARGE association 2023-05-25 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SEMA3E-related conditions. 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 836561). This variant is present in population databases (rs753965043, gnomAD 0.1%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces tyrosine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 391 of the SEMA3E protein (p.Tyr391Phe).
Baylor Genetics RCV001037725 SCV001528756 uncertain significance CHARGE association 2018-06-14 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001776097 SCV002012668 uncertain significance not provided 2021-02-01 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002479243 SCV002784700 uncertain significance CHARGE association; Hypogonadotropic hypogonadism 7 with or without anosmia 2022-04-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003953435 SCV004776254 likely benign SEMA3E-related condition 2022-03-31 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.