ClinVar Miner

Submissions for variant NM_032634.4(PIGO):c.1348del (p.Arg450fs)

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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 RCV005159648 SCV005792180 pathogenic Hyperphosphatasia with intellectual disability syndrome 2 2024-08-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg450Alafs*35) in the PIGO gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PIGO are known to be pathogenic (PMID: 22683086, 24417746). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PIGO-related conditions. For these reasons, this variant has been classified as Pathogenic.

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