ClinVar Miner

Submissions for variant NM_032634.4(PIGO):c.1271_1272del (p.Val424fs)

dbSNP: rs1563998317
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000699892 SCV000828622 pathogenic Hyperphosphatasia with intellectual disability syndrome 2 2022-01-15 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: 577203). This variant has not been reported in the literature in individuals affected with PIGO-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val424Aspfs*3) 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).
GeneDx RCV003329331 SCV004037012 likely pathogenic not provided 2023-03-09 criteria provided, single submitter clinical testing Reported heterozygous in an individual with epilepsy; however, no information was provided as to whether this individual harbored a variant on the other allele (Truty et al., 2019); Not observed at significant frequency in large population cohorts (gnomAD); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 31440721)

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