ClinVar Miner

Submissions for variant NM_032634.4(PIGO):c.581T>G (p.Phe194Cys)

gnomAD frequency: 0.00006  dbSNP: rs61755365
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001228203 SCV001400589 uncertain significance Hyperphosphatasia with intellectual disability syndrome 2 2022-07-29 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 194 of the PIGO protein (p.Phe194Cys). This variant is present in population databases (rs61755365, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with PIGO-related conditions. ClinVar contains an entry for this variant (Variation ID: 955541). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.
GeneDx RCV001562940 SCV001785790 uncertain significance not provided 2019-09-09 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001562940 SCV001799282 uncertain significance not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001562940 SCV001951817 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001562940 SCV001980201 uncertain significance not provided no assertion criteria provided clinical testing

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