ClinVar Miner

Submissions for variant NM_032634.4(PIGO):c.1991G>A (p.Arg664Gln)

gnomAD frequency: 0.00003  dbSNP: rs371923881
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000807715 SCV000947784 uncertain significance Hyperphosphatasia with intellectual disability syndrome 2 2023-11-28 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 664 of the PIGO protein (p.Arg664Gln). This variant is present in population databases (rs371923881, 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: 652206). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV000807715 SCV001448908 uncertain significance Hyperphosphatasia with intellectual disability syndrome 2 2019-09-06 criteria provided, single submitter clinical testing
GeneDx RCV001772086 SCV001994354 uncertain significance not provided 2022-05-04 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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