Total submissions: 5
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]. |
Gene |
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, |
RCV002479243 | SCV002784700 | uncertain significance | CHARGE association; Hypogonadotropic hypogonadism 7 with or without anosmia | 2022-04-14 | criteria provided, single submitter | clinical testing | |
Prevention |
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). |