ClinVar Miner

Submissions for variant NM_032634.4(PIGO):c.2080C>A (p.Leu694Ile)

gnomAD frequency: 0.00001  dbSNP: rs1489661507
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000650481 SCV000772327 uncertain significance Hyperphosphatasia with intellectual disability syndrome 2 2017-11-05 criteria provided, single submitter clinical testing 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with PIGO-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with isoleucine at codon 694 of the PIGO protein (p.Leu694Ile). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and isoleucine.

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