ClinVar Miner

Submissions for variant NM_032634.4(PIGO):c.204G>A (p.Ser68=)

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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 RCV002637605 SCV003517976 uncertain significance Hyperphosphatasia with intellectual disability syndrome 2 2022-07-20 criteria provided, single submitter clinical testing This sequence change affects codon 68 of the PIGO mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the PIGO protein. This variant is present in population databases (rs769904371, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with PIGO-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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