Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003551626 | SCV004252571 | uncertain significance | not provided | 2023-09-29 | 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 create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with SMARCA2-related conditions. This variant is present in population databases (rs761119921, gnomAD 0.002%). This sequence change falls in intron 22 of the SMARCA2 gene. It does not directly change the encoded amino acid sequence of the SMARCA2 protein. It affects a nucleotide within the consensus splice site. |
Prevention |
RCV003939063 | SCV004763247 | likely benign | SMARCA2-related disorder | 2021-02-08 | 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). |