ClinVar Miner

Submissions for variant NM_032634.4(PIGO):c.3154_3155delinsTT (p.Ala1052Phe)

dbSNP: rs1829305473
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001339808 SCV001533577 uncertain significance Hyperphosphatasia with intellectual disability syndrome 2 2020-09-02 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). This variant has not been reported in the literature in individuals with PIGO-related conditions. The frequency data for this variant in the population databases is not available, as this variant may be reported as separate entries in the ExAC database. This sequence change replaces alanine with phenylalanine at codon 1052 of the PIGO protein (p.Ala1052Phe). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and phenylalanine.

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