ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.1023-2A>T

dbSNP: rs1060501105
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000472343 SCV000544969 likely pathogenic Gorlin syndrome; Medulloblastoma 2024-08-08 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 8 of the SUFU 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 SUFU are known to be pathogenic (PMID: 22508808, 25403219, 33024317). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SUFU-related conditions. ClinVar contains an entry for this variant (Variation ID: 406381). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
New York Genome Center RCV003448312 SCV004176106 likely pathogenic Joubert syndrome 32; Basal cell nevus syndrome 2 2023-06-10 criteria provided, single submitter clinical testing

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