ClinVar Miner

Submissions for variant NC_000004.11:g.(?_502598)_(509994_?)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 RCV001909735 SCV002185613 pathogenic Intellectual disability, autosomal recessive 53 2023-08-17 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with PIGG-related conditions. For these reasons, this variant has been classified as Pathogenic. This variant is a gross deletion of the genomic region encompassing exon(s) 5-6 of the PIGG gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in PIGG are known to be pathogenic (PMID: 26996948, 28581210, 28771251).

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