ClinVar Miner

Submissions for variant NM_032634.4(PIGO):c.485A>G (p.Asn162Ser)

dbSNP: rs1480805750
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001754490 SCV001985926 uncertain significance not provided 2019-04-12 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV002032813 SCV002242310 uncertain significance Hyperphosphatasia with intellectual disability syndrome 2 2021-09-24 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 162 of the PIGO protein (p.Asn162Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PIGO-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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