ClinVar Miner

Submissions for variant NC_000010.10:g.(?_104263910)_(104389912_?)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 RCV004580384 SCV005064388 pathogenic Gorlin syndrome; Medulloblastoma 2023-10-15 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the SUFU gene has been identified. Loss-of-function variants in SUFU are known to be pathogenic (PMID: 22508808, 25403219, 33024317). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. Isolated whole-gene deletions of SUFU have not been reported in the literature. However, larger copy number events that include this gene have been reported (PMID: 12068298, 31639285). For these reasons, this variant has been classified as Pathogenic.

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