Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute for Clinical Genetics, |
RCV003238052 | SCV002009410 | likely pathogenic | not provided | 2021-11-03 | criteria provided, single submitter | clinical testing | |
Centogene AG - |
RCV001810317 | SCV002059870 | likely pathogenic | Seizures-scoliosis-macrocephaly syndrome | 2019-07-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001761997 | SCV003269561 | likely pathogenic | Exostoses, multiple, type 2 | 2022-09-12 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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: 1319798). This variant is also known as c.1404+2T>C.. Disruption of this splice site has been observed in individual(s) with clinical features of EXT2-related autosomal recessive neurodevelopmental condition (PMID: 34092239). This variant is present in population databases (rs202153611, gnomAD 0.002%). This sequence change affects a donor splice site in intron 8 of the EXT2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in EXT2 are known to be pathogenic (PMID: 10679937, 19810120). |
Baylor Genetics | RCV001761997 | SCV004192788 | uncertain significance | Exostoses, multiple, type 2 | 2023-10-18 | criteria provided, single submitter | clinical testing |