ClinVar Miner

Submissions for variant NM_032634.4(PIGO):c.1222C>T (p.Gln408Ter)

dbSNP: rs750636989
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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 RCV001939478 SCV002235184 pathogenic Hyperphosphatasia with intellectual disability syndrome 2 2020-11-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Gln408*) 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 present in population databases (rs750636989, ExAC 0.02%). This variant has not been reported in the literature in individuals with PIGO-related conditions.

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