ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.454+1G>A

dbSNP: rs1564676479
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000692365 SCV000820184 pathogenic Gorlin syndrome; Medulloblastoma 2022-10-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as 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: 571265). Disruption of this splice site has been observed in individual(s) with autosomal dominant basal cell nevus syndrome (Invitae). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 3 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).

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