ClinVar Miner

Submissions for variant NM_032634.4(PIGO):c.2383T>C (p.Tyr795His)

gnomAD frequency: 0.00002  dbSNP: rs760038249
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001247871 SCV001421322 uncertain significance Hyperphosphatasia with intellectual disability syndrome 2 2022-10-18 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 795 of the PIGO protein (p.Tyr795His). This variant is present in population databases (rs760038249, gnomAD 0.01%). 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 missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 971955). This variant has not been reported in the literature in individuals affected with PIGO-related conditions.
GeneDx RCV001560220 SCV001782584 uncertain significance not provided 2020-01-29 criteria provided, single submitter clinical testing 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 that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign in association with a neurodevelopmental disorder to our knowledge
Mayo Clinic Laboratories, Mayo Clinic RCV001560220 SCV002540989 uncertain significance not provided 2021-06-09 criteria provided, single submitter clinical testing

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