ClinVar Miner

Submissions for variant NM_032634.4(PIGO):c.178del (p.Ala60fs)

dbSNP: rs1378962389
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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 RCV001237288 SCV001410043 pathogenic Hyperphosphatasia with intellectual disability syndrome 2 2023-04-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala60Profs*15) 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 (no rsID available, gnomAD 0.01%). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 963282). This variant has not been reported in the literature in individuals affected with PIGO-related conditions.

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