ClinVar Miner

Submissions for variant NM_032634.4(PIGO):c.2817G>A (p.Val939=)

gnomAD frequency: 0.00001  dbSNP: rs371834214
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001922251 SCV002156028 uncertain significance Hyperphosphatasia with intellectual disability syndrome 2 2021-09-21 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. This variant has not been reported in the literature in individuals affected with PIGO-related conditions. This variant is present in population databases (rs371834214, ExAC 0.02%). This sequence change affects codon 939 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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