ClinVar Miner

Submissions for variant NC_000009.11:g.(?_34459004)_(36276941_?)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 RCV001382817 SCV001581748 pathogenic Hyperphosphatasia with intellectual disability syndrome 2 2020-07-13 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the PIGO gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals with PIGO-related disease. Loss-of-function variants in PIGO are known to be pathogenic (PMID: 22683086, 24417746). For these reasons, this variant has been classified as Pathogenic.

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