ClinVar Miner

Submissions for variant NM_032634.4(PIGO):c.715C>T (p.His239Tyr)

dbSNP: rs1273593671
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001300981 SCV001490137 uncertain significance Hyperphosphatasia with intellectual disability syndrome 2 2020-08-11 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with clinical features of PIGO-related conditions (Invitae). 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. This variant is not present in population databases (ExAC no frequency). This sequence change replaces histidine with tyrosine at codon 239 of the PIGO protein (p.His239Tyr). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and tyrosine.

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