ClinVar Miner

Submissions for variant NC_000010.10:g.(?_104352329)_(104353832_?)del

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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 RCV001387714 SCV001588404 pathogenic Gorlin syndrome; Medulloblastoma 2020-02-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SUFU are known to be pathogenic (PMID: 22508808, 25403219). This variant has been observed in individual(s) with basal cell nevus syndrome (Invitae). This variant is an out-of-frame deletion of the genomic region encompassing exon(s) 4-6 of the SUFU gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product.

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