ClinVar Miner

Submissions for variant NM_032634.4(PIGO):c.2355C>T (p.Gly785=)

gnomAD frequency: 0.00001  dbSNP: rs766309673
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001061698 SCV001226449 uncertain significance Hyperphosphatasia with intellectual disability syndrome 2 2020-02-06 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with PIGO-related conditions. This variant is present in population databases (rs766309673, ExAC 0.002%). This sequence change affects codon 785 of the PIGO mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the PIGO protein.

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