ClinVar Miner

Submissions for variant NM_032634.4(PIGO):c.773del (p.Val258fs)

gnomAD frequency: 0.00001  dbSNP: rs765723177
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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 RCV001382941 SCV001581901 pathogenic Hyperphosphatasia with intellectual disability syndrome 2 2022-02-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1070693). This variant has not been reported in the literature in individuals affected with PIGO-related conditions. This variant is present in population databases (rs765723177, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Val258Glyfs*16) 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).

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