ClinVar Miner

Submissions for variant NC_000004.11:g.(?_493125)_(663896_?)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 RCV003105439 SCV003792242 pathogenic Intellectual disability, autosomal recessive 53 2022-09-27 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the PIGG gene has been identified. Loss-of-function variants in PIGG are known to be pathogenic (PMID: 26996948, 28581210, 28771251). 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 PIGG have not been reported in the literature. However, larger copy number events that include this gene have been reported (PMID: 26996948). For these reasons, this variant has been classified as Pathogenic.

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