ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.1305+2T>C

gnomAD frequency: 0.00001  dbSNP: rs202153611
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003238052 SCV002009410 likely pathogenic not provided 2021-11-03 criteria provided, single submitter clinical testing
Centogene AG - the Rare Disease Company 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

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