ClinVar Miner

Submissions for variant NC_000008.10:g.(?_15397940)_(15615318_?)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 RCV004583275 SCV005062886 pathogenic Intellectual disability, autosomal recessive 7 2023-09-29 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the TUSC3 gene has been identified. Loss-of-function variants in TUSC3 are known to be pathogenic (PMID: 18455129, 25626710). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. A similar copy number variant has been observed in individual(s) with intellectual disability (PMID: 23806237). For these reasons, this variant has been classified as Pathogenic.

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