Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001307697 | SCV001497118 | uncertain significance | CHARGE association | 2023-05-26 | criteria provided, single submitter | clinical testing | 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1010114). This variant has not been reported in the literature in individuals affected with SEMA3E-related conditions. This variant is present in population databases (rs201772961, gnomAD 0.005%). This sequence change falls in intron 13 of the SEMA3E gene. It does not directly change the encoded amino acid sequence of the SEMA3E protein. It affects a nucleotide within the consensus splice site. |
Fulgent Genetics, |
RCV002499585 | SCV002812073 | uncertain significance | CHARGE association; Hypogonadotropic hypogonadism 7 with or without anosmia | 2021-07-05 | criteria provided, single submitter | clinical testing |