ClinVar Miner

Submissions for variant NM_032634.4(PIGO):c.2176G>A (p.Asp726Asn)

dbSNP: rs1306054354
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001876417 SCV002119643 uncertain significance Hyperphosphatasia with intellectual disability syndrome 2 2021-08-05 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with PIGO-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces aspartic acid with asparagine at codon 726 of the PIGO protein (p.Asp726Asn). The aspartic acid residue is weakly conserved and there is a small physicochemical difference between aspartic acid and asparagine. 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: "Deleterious"; PolyPhen-2: "Benign"; 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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