ClinVar Miner

Submissions for variant NM_032634.4(PIGO):c.1707G>C (p.Glu569Asp)

dbSNP: rs752287920
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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 RCV000793131 SCV000932471 uncertain significance Hyperphosphatasia with intellectual disability syndrome 2 2023-08-24 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 640164). 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 replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 569 of the PIGO protein (p.Glu569Asp). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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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