ClinVar Miner

Submissions for variant NC_000010.10:g.(?_104352329)_(104352491_?)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 RCV001387713 SCV001588402 pathogenic Gorlin syndrome; Medulloblastoma 2020-08-10 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). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with SUFU-related conditions. This variant is an out-of-frame deletion of the genomic region encompassing exon 4 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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